Pediatric Dermatology Flashcards

Question

26- Sturge-Weber syndrome is a sporadic disorder characterized by a facial port-wine stain associated with ocular and neurologic abnormalities. It can occur in the first year of life and is more common in patients with bilateral forehead port-wine stains. Which of the following is the most common neurologic abnormality in patients with Sturge-Weber syndrome? A. Seizures B. Motor dysfunction C. Glaucoma D. Intracranial "tram-track" calcification E. Mental retardation

Answer 1

Correct choice: A. Seizures Explanation: Of the answer choices listed, the most common neurologic abnormality that patients with Sturge-Weber syndrome develop is seizures. Motor dysfunction, intracranial "tram-track" calcification, and mental retardation may occur in patients with Sturge-Weber syndrome, however seizures are more common. Glaucoma is an extremely common OCULAR abnormality

Answer 2

Correct choice: A. Schimmelpenning syndrome Explanation: Schimmelpenning syndrome (aka organoid nevus syndrome) involves a mostly linear nevus sebaceous associated with ocular malformations, mental retardation, seizures, and skeletal and cardiovascular abnormalities. Nevus sebaceous is a congenital hairless, yellow to orange plaque on the scalp. Nevus comedonicus syndrome is characterized by a nevus comedonicus plus ipsilateral cataract and skeletal/CNS abnormalities. Nevus sebaceous of Jadassohn refers simply to a solitary nevus sebaceous. Ichthyosis hystrix (aka generalized epidermal nevus) displays extensive bilateral systematized lesions. Lastly, Schnitzler syndrome is typified by episodes of urticaria plus fever, lymphadenopathy, hepatosplenomegaly, bone pain, sensorimotor neuropathy, and a monoclonal IgM gammopathy.

Answer 3

Correct choice: C. Smooth muscle hamartoma Explanation: Smooth muscle hamartomas are benign tumors which arise from smooth muscle of the dermis. Pseudo-Darier's sign may be elicited due to transient piloerection after rubbing. Histologically, red-orange bundles and fascicles are present with blunt-ended nuclei. Pseudo- Darier's sign is not seen with the other listed conditions.

Answer 4

Correct choice: B. Mineral oil prep Explanation: This clinical image and scenario most likely represents Infantile acropustulosis (IA), which is a benign vesiculopustular condition with an often chronic course in infants. The etiology is unknown. Some studies suggest that African-American male infants are more commonly affected. IA is characterized by recurrent crops of intensely pruritic vesiculopustules on the palms and soles. The diagnosis is based on clinical features and given the similar appearance, scabies should be ruled-out with a mineral oil prep. The other tests are generally not necessary in this clinical scenario. If a skin biopsy is performed, it would demonstrate a subcorneal pustule with neutrophils and eosinophils.

Answer 5

Correct choice: C. Molluscum contagiosum Explanation: Molluscum contagiosum is a viral infection characterized by skin-colored, dome- shaped papules with central umbilication. The diagnosis can be made clinically. A benign and self- limited skin condition, treatment options include destructive modalities or observation. Inflammation of individual lesions may indicate spontaneous regression. Eosinophilic pustular folliculitis is a rare condition of infancy characterized by sterile pustules most commonly located on the face and scalp. The lesions are pruritic and tend to develop heme crusts. This form is not associated with HIV. Verrucae vulgares are hyperkeratotic, exophytic papules also known as common warts. They are the result of cutaneous infection with the human papillomavirus. Central umbilication is not a characteristic feature. Herpes simplex is caused by herpes simplex virus 1 and 2. The characteristic morphology is grouped vesicles on an erythematous base. In the immunocompromised patient, the differential diagnosis of umbilicated papules includes Cryptococcus. Systemic symptoms, as well as rapid spreading, ulceration and bleeding, may be important clinical clues.

Answer 6

Correct choice: A. Adams-Oliver Syndrome Explanation: Adams-Oliver syndrome is characterized by aplasia cutis congenita on the scalp (with skull ossification defect), cutis marmorata telangiectatica congenita, limb defects and cardiac abnormalities. Aplasia cutis congenital (ACC) is characterized by an absence of skin and subcutaneous tissue. Gianotti-Crosti syndrome manifests as an abrupt onset of skin-colored to pink- red edematous papules on the cheeks, buttocks, and extremities. It is typically due to a viral infection (EBV, HBV). Bart syndrome is characterized by ACC of the lower extremities plus epidermolysis bullosa (typically dominant dystrophic EB). Seitles syndrome displays bilateral temporal ACC, abnormal eyelashes, leonine facies, and upward-slanting eyebrows. McCune- Albright syndrome (aka polyostotic fibrodysplasia) results from a sporadic mutation in GNAS, and is characterized by precocious puberty, endocrine hyperfunction, large cafe-au-lait pigmentation ("coast of Maine"), and fibrous dysplasia of bones (which may lead to pathologic fractures).

Answer 7

Correct choice: A. Eye Explanation: The eye is the most frequent site of extracutaneous juvenile xanthogranuloma. Ocular involvement is typically unilateral. The second most common site of extracutaneous disease is the lungs.

Answer 8

Correct choice: E. Epidermal nevus Explanation: This is a example of a verruous somewhat linear plaque present since birth or early infancy, which is most consistent with an epidermal nevus. A verruca would not be present for the patient's entire lifetime. The other options would not present as a verrucous plaque.

Answer 9

Correct choice: D. IV Explanation: Type IV, or circumscribed juvenile, accounts for 25% of total PRP cases, and is the most common type of PRP in childhood. The most common type of PRP is Type I (classic adult), which accounts for 55% of cases. Types II (atypical adult), III (classic juvenile), and V (atypical juvenile) each account for 10% or less of cases.

Answer 10

Correct choice: A. GNAQ Explanation: The Sturge–Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. GNAS mutations are associated with McCune-Albright syndrome and Albright hereditary osteodystrophy. PIK3CA mutations are associated with Klippel-Trenaunay syndrome, MCAP and CLOVES syndromes, as well as fibroadipose hyperplasia. PTEN mutations are associated with Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, and Lhermitte-Duclos disease. RASA1 mutations are associated with Parkes-Weber syndrome.

Answer 11

Correct choice: D. Poxvirus Explanation: The image shows molluscum contagiosum, which is a member of the Poxvirus family. Molluscum does not belong to the other listed families of viruses.

Answer 12

Correct choice: B. Lichen striatus Explanation: Lichen striatus is a benign and self limited inflammatory condition, most commonly affecting pediatric patients. The flat topped papules form Blashko's lines. The dermatitis is usually asymptomatic and treatment is not necessary. When an extremity is involved, there may be associated nail dystrophy. Psoriasis is a papulosquamous dermatosis; there is a linear variant. The primary lesion of psoriasis is a discrete erythematous papule or plaque with micaceous scale. In the inverse form, scale is less apparent. Verrucae are hyperkeratotic papules cause by the human papillomavirus. Due to autoinoculation, at times verrucae can be arranged linearly, particularly with flat warts. Thrombosed capillaries may be seen as black dots, aiding in the daignosis. The primary lesions of herpes zoster are grouped vesicles on an erythematous base in a dermatomal arrangement. An epidermal nevus is a benign growth composed of epidermal structures. It is usually present at birth or recognized in early childhood. It forms Blashko's lines like lichen straitus and can be distinguisehd by its hyperpigmented and verrucous appearance.

Answer 13

Correct choice: E. Nail shedding, onychomadesis, can occur but results in normal nail plate growth Explanation: This vignette describes hand-foot-mouth syndrome. A common finding after the viral illness is to have shedding of the fingernails, onychomadesis. Afterwards the nails grow back normally and reassurance is important for patients and parents. The other options are true of other viral illnesses but not of hand-foot-mouth particularly.

Answer 14

Correct choice: A. Pseudoparalysis of Parrot Explanation: Pseudoparalysis of Parrot is a sign of early congenital syphilis. It is pain moving a limb secondary to syphilitic periostitis. Early congenital syphilis occurs before 2 years of age, whereas late congenital syphilis generally occurs after 2 years of age. Higoumenakis sign, clutton joints, mulberry molars, and saddle nose deformity are all signs of late congenital syphilis.

Answer 15

Correct choice: A. This lesion may be caused by vigorous sucking of the affected region in utero Explanation: A sucking blister is caused by vigorous sucking of the affected region in utero. Common locations include the radial forearm, wrists, hands, and fingers. It may present with an intact bulla, erosion, callus or superficial ulceration on a non-inflamed base. It is usually an isolated finding without associated abnormalities. It resolves over days to weeks and therapy is usually supportive. 2 – Sucking blisters are commonly located on the radial forearm, wrist, hands and fingers. 3 – Sucking blisters are usually an isolated finding without associated abnormalities. 4 – Sucking blisters resolve over days to weeks and therapy is supportive. 5 – Sucking blisters resolve over days to weeks and therapy is supportive.

Answer 16

Correct choice: C. Along the lines of blaschko Explanation: This is an epidermal nevus. Epidermal nevi are typically distributed along the lines of blaschko and can be located anywhere on the body

Answer 17

Correct choice: C. Cardiac aneurysm Explanation: Cardiac aneurysm is a serious complication of . However, as the cardiovascular manifestations generally present 1 –5 months after presentation, they are not criteria for diagnosis. The other listed choices are major criterion for Kawasaki’s disease.

Answer 18

Correct choice: E. Obtain skin biopsy Explanation: In infants, Langerhans cell histiocytosis (LCH) can mimic severe seborrheic dermatitis. A skin biopsy should be performed to make the diagnosis. This question tests the examinee’s ability to recognize LCH presenting with coalescing erythematous papules with secondary crusting and erosion on an infant's scalp, and know the correct next step in management. A skin biopsy (choice 5) is required to make the diagnosis of LCH. Prescribing a strong topical steroid solution (choice 1) is generally inappropriate in infants and will not assist in making the diagnosis imminently needed in this scenario. Although secondary impetiginization may be present, obtaining a bacterial culture (choice 2) is not the best answer because it will delay the diagnosis of LCH, a potentially life-threatening condition. The favus form of dermatophyte hair infection can produce large yellow crusts on the scalp, but would not be expected to demonstrate discrete erythematous papules; therefore, fungal culture (choice 3) is not the best answer. A complete blood count (choice 4) is obtained as part of the workup for LCH, but is of lower priority than skin biopsy to make the initial diagnosis.

Answer 19

Correct choice: E. Reassurance Explanation: This case describes erythema toxicum neonatorum, a benign, self-limited neonatal eruption that spares the palms and soles that affects 7-45% of newborns. The condition typically presents on the second or third day of life and resolves by approximately 1 week. No treatment is indicated. Choice 1 is incorrect as acyclovir would be the treatment of neonatal herpes simplex virus (HSV) infection. Choice 2 is incorrect as avoidance of heat would be the treatment for miliaria. Choice 3 is incorrect as fluconazole would be indicated for neonatal candidiasis. Choice 4 is incorrect as penicillin would be the treatment for neonatal syphilis.

Answer 20

Correct choice: D. Doxycycline Explanation: The preferred treatment for all patients with Rocky Mountain Spotted Fever is doxycycline. Although tetracyclines can cause dental staining when administered to children younger than eight years old, the risk of staining is minimal if a short course is prescribed. In a study of 53 children who received doxycycline for RMSF, none developed dental staining. The other medications are not first-line for RMSF.

Answer 21

Correct choice: D. Coxsackievirus A16 Explanation: The question stem describes the classic presentation of Hand-Foot-Mouth (and Butt) disease, which is a self-limited condition that commonly occurs in children <10 years (+/- adults). Coxsackievirus A16 is the most likely causative organism. It is important to note that Coxsackievirus A6 may lead to development of atypical HFM disease, which is more widespread and severe. Enterovirus 71 may cause HFM disease, but it is less likely than Coxsackievirus A16. Parvovirus B19 causes erythema infectiosum (Fifth disease), hydrops fetalis, and papular purpuric gloves and socks syndrome. Herpes simplex virus 1 most commonly causes herpes gingivostomatitis, and may also cause genital herpes (HSV 2 is more likely though). Epstein-Barr virus is associated with infectious mononucleosis and Gianotti-Crosti syndrome, among other conditions.

Answer 22

Correct choice: A. Zinc supplementation Explanation: Acrodermatitis enteropathica is due to a defect in zinc absorption and will respond to zinc supplementation. Findings include periorificial, scalp, and acral dermatitis, scaling, vesicles/ bullae, erosions, alopecia, diarrhea and stomatitis. Iron, Vitamin B1/12 supplementation will not result in improvement in this condition, neither will phlebotomy.

Answer 23

Correct choice: A. CD4+ cell infiltrate Explanation: The image shows pityriasis lichenoides chronica (PLC), a rare, chronic cutaneous disorder most commonly seen in children and young adults with a slight male predominance. PLC presents with a widespread eruption comprised of scaly, red-brown papules and plaques that resolve with hypopigmentation. Both pityriasis lichenoides at varioliformis acute (PLEVA) and PLC contain lesional T cell infiltrates, with a general predominance of CD8+ T cells in PLEVA and CD4+ cells in PLC (Choice 1). Choice 2 is incorrect as this describes pityriasis rosea, which has been associated with reactivation of HHV-6/HHV-7. Choice 3 is incorrect as this describes tinea versicolor, which is caused by growth of dimorphic yeast of the Malassezia genus. Choice 4 is incorrect as this describes phrynoderma, which is due to deficiency in vitamin A metabolism. Choice 5 is incorrect as this describes guttate psoriasis, which has been associated with preceding streptococcal pharyngitis.

Answer 24

Correct choice: D. The sclera is the most common extracutaneous site Explanation: The image depicts a Nevus of Ota, which presents as unilateral, grey-blue macules typically involving the V1 and V2 distributions of the trigeminal nerve. The most common extracutaneous site is the sclera, followed by the typanum. Nevus of Ota onsets either near birth or during puberty, occurs most commonly in women of Asian descent, and is most frequently unilateral.

Answer 25

Correct choice: B. Mastocytosis Explanation: The patient presents with likely systemic mastocytosis, but definitively with diffuse cutaneous mastocytosis based on the appearance of the skin lesions and the c-KIT positive staining pattern. T cell and B cell lymphoma are not correct as the staining pattern and infiltrate would appear differently in each of those conditions. Congenital syphilis would not stain positive for c- KIT, though syphilis should be on the differential diagnosis clinically. Neuroendocrine IHC markers, such as CD56, chromogranin A, and synaptophysin would be present in the case of neuroblastoma.

Answer 26

Correct choice: A. Incontinentia pigmenti Explanation: The vesicular lesions following the lines of Blaschko are typical for incontinentia pigmenti. The other listed conditions are less likely to be represented by this clinical photo.

Answer 27

Correct choice: E. Bronchogenic cyst Explanation: Bronchogenic cysts are most commonly found in the suprasternal notch and often drain fluid. The lining of the cyst is typically ciliated and may be columnar or cuboidal. Squamous metaplasia is common. In the wall, it is very common to find smooth muscle and respiratory-type mucous glands. Cartilage is another common finding in the wall.

Answer 28

Correct choice: B. Arterial studies Explanation: This is an example of a segmental hemangioma which is concerning for PHACES sysdrome. Patients with PHACES syndrome have arterial anomolies in the head/neck and heart. These anomolies in conjunction with propanolol may hypothetically put the patient at risk for arterial compromise/stroke, therefore it is important to check for any arterial abnormalities (MRA head and neck, echocardiogram) prior to starting propanolol in these patients. In addition to MRA of the head/neck and an echocardiogram, patients with PHACES syndrome should have an MRI brain to rule out posterior fossa malformation, and opthalmologic exam to look for eye abnormalities. However these tests/studies are not necessarily needed to start propnaolol. Patients with hemangiomas of the "bearded" region need direct visualization of the airway (laryngoscopy) when the hemangioma involves the bearded region to rule out airway compromise, however this is not necessarily needed prior to starting propanolol. Large hemagiomas can cause a consumptive hypothyroidism, therefore it is prudent to check a TSH.

Answer 29

Correct choice: B. Granulomatous perioral dermatitis Explanation: The photo and histology are diagnostic of GPD. The photo shows a monomorphous perioral/periocular facial eruption. The histology shows granulomatous inflammation.

Answer 30

Correct choice: C. Neurocutaneous melanosis Explanation: This is a giant congenital melanocytic nevus which is associated with neurocutaneous melanosis. Brachydactyly is seen in Rubenstein-Taybi. Limb length discrepancy is seen in KlippelTrenaunay syndrome.

Answer 31

Correct choice: E. If present on scalp with dominant dystrophic epidermolysis bullosa, it is known as Bart syndrome. Explanation: The correct answer is E (E is false). The photo depicts aplasia cutis congenita (ACC). Bart syndrome is ACC of the lower extremities (not scalp) and dominant dystrophic epidermolysis bullosa. Choice A describes the hair collar sign. Choice D describes Setleis syndrome.

Answer 32

Correct choice: C. Lymphoma Explanation: This case describes ataxia-telangiectasia syndrome, an autosomal recessive, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulomary infections, impaired organ maturation, X-ray hypersensitivity, ocular and cutaneous telangiectasias, and a predisposition to malignancy (particulary breast cancer, leukemia, and lymphoma - Choice 3). The features of epistaxis (Choice 1), gastrointestinal bleeding (Choice 2), CNS aneurysms (Choice 4), and pulmonary arteriovenous malformations (Choice 5) are seen in hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease), which is due to a mutation in the ATM gene.

Answer 33

Correct choice: C. Penicillin Explanation: This is perianal strep which occurs in kids. Treatment is Penicillin or Amoxicillin for 10 days to three weeks. It can recur, and if it does it requires retreatment with antibiotics.

Answer 34

Correct choice: B. Child abuse Explanation: This is lichen sclerosus et atrophicus in a child which happens in about 10% of the cases. It is frequently misdiagnosed as child abuse as there can be hemorrhagic bullae as part of the disease. The porcelain white and hemorrhagic bullae are clues to think of LS and A.

Answer 35

Correct choice: A. Coproporphyrinogen oxidase Explanation: Hereditary coproporphyria is characterized by photosensitivity and can also present with neuropsychiatric issues. They also have skin fragility and blistering is common. It is caused by a defect in Coproporphyrinogen oxidase. The other listed enzymes are not mutated in hereditary coproporphyria.

Answer 36

Correct choice: E. High output cardiac failure Explanation: The correct answer is E, which is a concern with diffuse neonatal hemangiomatosis. The remainder are within PELVIS syndrome (Perineal hemangioma, External genital malformation, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, Skin tag).

Answer 37

Correct choice: C. Calcinosis cutis Explanation: This is a picture of the ragged cuticles in DM. Children with dermatomyositis are more likely to have calcinosis cutis and vasculitis. They have do not have increased risk of malignancy. Interstitial lung disease is a rare complication of juvenile dermatomyositis.

Answer 38

Correct choice: D. Oral propranolol Explanation: Hemangiomas in the rapidly growing phase can be detrimental to vision if periorbital. Treatment is the standard of care with propranolol showing the greatest efficacy.

Answer 39

Correct choice: D. Treat with oral amoxicillin Explanation: Treating the patient with oral amoxicillin (Choice 4) is the correct answer. The image shows an example of a presentation of Lyme disease. Please note the targetoid nature of the eruption, which can sometimes be masked by hair on the scalp, delaying diagnosis and treatment. Patients 8 years of age and younger should not receive treatment with doxycycline for Lyme as it is contraindicated due to risk of permanent tooth staining and dental enamel hypoplasia. Amoxicillin 250mg TID or 20mg/kg/day in TID dosing for at least two weeks is appropriate. Choice 1 is incorrect as a culture of the ear for bacteria would be indicated if there is evidence of otitis externa. The earlobe and conchal bowl do not have any surface disruption or drainage for culture. Choice 2 and 4 are incorrect as antihistamines, cool compresses, acetaminophen, and methol-containing products can be used for supportive treatment, but are not the most appropriate next step in this case. Choice 3 is incorrect because the patient has a characteristic erythema chronicum migrans eruption and symptoms consistent with early Lyme disease. Immediate treatment should be the next step. Additionally, only 25-50% of patients will have a positive Lyme ELISA screen when they present with erythema chronicum migrans.

Answer 40

Correct choice: B. Collagen VII Explanation: Bart’s syndrome refers to congenital aplasia cutis (typically of the shins) and associated epidermolysis bullosa, most commonly dominant dystrophic EB. In dominant dystrophic EB there is a defect in Collagen VII. Bart's syndrome is not associated with any of the other listed defects.

Answer 41

Correct choice: E. Langerin Explanation: This is Hashimoto-Pritzker disease, benign single system Langerhans cell histiocytosis. It is characterized by congenital selfhealing papulonodules that are red-brown color. It is composed of Langerhans cells which are langerin positive and CD1a positive and CD68 negative.

Answer 42

Correct choice: E. Ulerythema ophryogenes Explanation: Ulerythema ophryogenes is a rare disorder that affects children and young adults. It is characterized by keratosis pilaris atrophicans and loss of lateral third of eyebrow. The other listed conditions do not exhibit this

Answer 43

Correct choice: A. TIE2 Explanation: Blue rubber bleb nevus syndrome is a rare sporadic, or sometimes autosomal dominant, disorder with soft compressible blue tumors on the trunk and arms. Nocturnal pain is characteristic. Gastrointestinal hemangiomas can cause hemorrhage or intussusception. Mutations in the TIE2 gene have been reported. It is also known as Bean Syndrome. ENG (endoglin, aka HHT1) is mutated in hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu). PIK3CA mutations are associated with Klippel-Trenaunay syndrome, and CLOVES syndrome (and other overgrowth disorders). PTEN mutations are associated with Cowden, Bannayan-Riley-Ruvalcaba, and Proteus-like syndromes. Lastly, Mafucci syndrome is associated with a sporadic mutation in the PTH/PTHrP type 1 receptor.

Answer 44

Correct choice: B. Erythema dyschromicum perstans Explanation: The photo and histology are diagnostic of EDP, a benign condition characterized by sudden onset of blue-brown asymptomatic macules. Histology shows sparse perivascular infiltrate with melanophages.

Answer 45

Correct choice: A. First 20 weeks Explanation: Congenital Varicella Syndrome occurs after maternal varicella-zoster virus infection early in pregnancy, most commonly between 8 and 20 weeks gestation. Characteristic findings of affected infants include some or all of the following: intrauterine growth resrtriction, cicatricial skin lesions, ocular defects, limb abnormalities, CNS abnormalities. Newborns born to mothers who develop symptoms of VZV from 5 days before to 2 days after delivery are at risk of neonatal varicella.

Answer 46

Correct choice: A. Hutchinson's teeth Explanation: The dental findings that may be found in patients with late congenital syphilis are called Hutchinson's teeth, which refers to enamel hypoplasia of maxillary central incisors and semi- lunar notching on the incisal edge of mandibular incisors. Mulberry molars (not incisors) may also been seen in patients with late congenital syphilis. Erythrodontia (red teeth) is seen in Congenital Erythropoietic Porphyria (aka Gunther's disease). Odontogenic keratocysts may be seen in Gorlin syndrome (aka basal cell nevus syndrome). Jaw osteomas may be seen in Gardner syndrome.

Answer 47

Correct choice: D. Reassurance Explanation: Reassurance is all that is necessary for benign nipple enlargement. Patient can be referred to plastic surgery for revision if he chooses to do so in the future on his own accord.No intervention is necessary medically.

Answer 48

Correct choice: B. Kawasaki disease Explanation: The pictured oral finding is that of strawberry tongue. This patient fulfills clinical criteria for Kawasaki disease with fever for 5 days, bilateral bulbar conjunctival injection without exudate, strawberry tongue, edema of feet, and polymorphous exanthem. The remaining answer choices may also present with a strawberry tongue, but the clinical description best describes Kawasaki disease.

Answer 49

Correct choice: A. Eczema herpeticum Explanation: Eczema herpeticum is a secondary infection that occurs in patients with atopic dermatitis. It is readily identified by monomorphic punched out erosions occuring within areas of eczema. Intact vesicles are less commonly seen. The treatment involves systemic antivirals as well as continuation of topical steroids. Bacterial and viral infectious are more commonly seen in patients with atopic dermatitis due to imparied skin barrier. Impetigo is caused by staph aureus and clinically characterized by honey crusting. Patients with atopic dermatitis are colonized with staph aurues and at risk of secondary impetiginization. Bleach baths are an effective component of maintenance treatment to prevent infection. Varicella, chickenpox, is characterized by lesions in various stages of evolution. It is caused by the varicella-zoster virus. Molluscum contagiosum is a benign and self limited cutaneous infection caused by the pox virus. The characteristic lesion is a dome shaped papule with central umbilication. Molluscum contagiosum can occur in areas of active atopic dermatitis. Verrucae are another benign and self limited viral infection caused by the human papilloma virus. They have a hyperkeratotic surface and thrombosed capillaries may be visible as black dots. They do not erode or ulcerate.

Answer 50

Correct choice: A. Darier's sign Explanation: Darier's sign is seen in patients with urticarial pigmentosa, a common form of mastocytosis. Erythema and wheals are commonly elicited with stroking or rubbing secondary to mast cell degranulation. Symptoms can range from very mild (flushing, hives, no treatment needed) to life-threatening (vascular collapse). Asboe Hansen, commonly seen in pemphigus vulgaris, refers to extension of a bulla to adjacent unblistered skin when pressure is put on top of a bulla.

Answer 51

Correct choice: B. Acoustic testing Explanation: This kodachrome shows a child with an accessory tragus. These typically occur on the preauricular cheek but can also occur on the lateral cheeks and neck. They can be associated with branchial arch syndromes (Goldenhar, oculo-auriculo-vertebral). They can be associated with hearing or genitourinary defects and therefore acoustic testing should be pursued. The other choices would not be the appropriate first step in evaluating accessory tragi.

Answer 52

Correct choice: B. TIE2/TEK2 Explanation:Venous malformations are compressible, rubbery, blue-red masses that are caused by a post zygotic somatic or germline mutation in TIE2/TEK2. This can be seen in the setting of Blue rubber bleb nevus syndrome or multiple cutaneous and mucosal venous syndrome. GLUT1 mutations occur in infantile hemangiomas. GNAQ mutations occur in Sturge-Weber syndrome and sporadic port wine stains. Endoglin mutations occur in hereditary hemorrhagic telangiectasia syndrome. Hamartin mutations occur in Tuberous Sclerosis.

Answer 53

Correct choice: C. GJB6 Explanation: Clouston syndrome (HED) is caused by mutations in the GJB6 gene (13q12), encoding the gap junction protein connexin 30 (Cx30).

Answer 54

►A A NEMO gene defect can cause subungual keratotic growths. The typical age of presentation is early adulthood.

Answer 55

►A Almost all sporadic adult onset mastocytosis patients demonstrate mutations in c-kit. Most of these are activating mutations linked to the 816 codon. Unfortunately, patients with this specific mutation tend to not respond to systemic therapy with oral imantinib, a tyrosine kinase inhibitor.

Answer 56

►D Deficiency of the IL-1 receptor antagonist(DIRA). These patients, early in their lives, present with severe pustulosis and ichthyosiform skin eruptions. Also they can have joint pains and oral mucosal lesions. DIRA is a new addition to the spectrum of autoinflammatory disorders. It will not be encountered often, but its origin highlights the importance of IL-1 in skin function.

Answer 57

►D Fetal hydrops may occur with parvovirus infection during all three trimesters although the greatest risk is during the second trimester. Congenital anomalies are not a feature.

Answer 58

►A Schimmelpenning's syndrome involves a large nevus sebaceous associated with ocular lesions, intracranial masses and mental retardation. Nevus sebaceous is a congenital hairless, yellow to orange plaque on the scalp.

Answer 59

►B The warty papules of perianal pseudoverrucous papules and nodules are seen more commonly in the setting of chronic fecal incontinence.

Answer 60

►D The skin can provide an important clue to the presence of an underlying neural tube defect, such as meningomyelocele and encephalocele. Cutaneous lesions along the midline of the spine should always prompt consideration of this possibility. Although, midline neural tube defects are uncommon, early recognition and diagnosis of a spinal dysraphism can have important implications for early surgical correction and minimizing loss of neurologic function. Clues to the diagnosis include a midline dimple, tuft of hair, lipoma, or vascular lesion. In these instances, imaging studies (MRI, CT, ultrasound) should be promptly initiated.

Answer 61

►C The lesion represented in the photo is an arteriovenous vascular malformation. These lesions do not typically regress.

Answer 62

►A Wiskott-Aldrich syndrome is an X-linked recessive disorder caused by mutations in WAS gene. Patients with Wiskott-Aldrich have atopic dermatitis with increased risks for secondary infection, thrombocytopenia, and recurrent bacterial infections. They are also at an increased risk for lymphoreticular malignancy (20%).

Answer 63

►A Although the exact mechanism is not known, there is a well-known correlation between a history of upper respiratory infection secondary to group A beta-hemolytic streptococci and the subsequent development of guttate psoriasis. The eruption may resolve spontaneously or with treatment (topical steroids or ultraviolet therapy). Some portion of these patients eventually develop chronic, plaque- type psoriasis.

Answer 64

►A All of the options result in an eczematous acrodermatitis enteropathica-like eruption except granuloma gluteale infantum. As the name suggests, the lesions of granuloma gluteale infantum are granulomatous.

Answer 65

►E The ectodermal-clefting syndromes are caused by a defect in the p63 gene. Specifically, AEC or Hay-Wells syndrome is comprised of ankyloblepharon filiforme adnatum, ectodermal dysplasia and clefting.

Answer 66

►A The most likely diagnosis is subcutaneous fat necrosis of the newborn. Hypercalcemia may result and serum calcium levels should be monitored up to 4 weeks after resolution of the skin.

Answer 67

►D Rapp-Hodgkin, along with the other ectodermal dysplasia-clefting syndromes, is reportedly caused by a defect in the p63 gene.

Answer 68

►A The erythematous eruption on the cheeks precedes the generalized lacy rash of Fifth disease. The causative agent is parvovirus B19, a single stranded DNA virus.

Answer 69

►D The photosensitivity of xeroderma pigmentosum is caused by defect in DNA repair mechanisms. Thymidine kinase is not affected.

Answer 70

►B Pastia”s lines are defined as a linear accentuation of the erythematous sandpaper rash within the flexures. This is classically described with scarlet fever.

Answer 71

►B The multiple labial lentigo seen on this young boy are seen with Peutz -Jeghers syndrome. A defect in the STK11 gene is responsible.

Answer 72

►D Cockayne Syndrome is AR, caused by defective excision repair, cross-complementing group 8 gene (ERCC8). It presents with photosensitivity, mental retardation, and cachectic dwarfism. Patients have a characteristic "wizened" appearance, "bird-headed" facies, and "Mickey Mouse" ears. Cataracts, deafness, pigmentary retinopathy, dental caries, and skeletal, GU, and endocrine abnormalities may be seen.

Answer 73

►C The photo shows keratosis pilaris atrophicans faceii and surgically corrected ptosis. Both of these findings are associated with Noonan syndrome.

Answer 74

►A Self-healing papular mucinosis is a rare disorder characterized by small, nontender, flesh-colored papules commonly seen on the head, neck, trunk, and periarticular areas of children. Self-healing papular mucinosis is associated with systemic findings during acute stages, including fever, arthralgias, weakness, and often carpal tunnel syndrome. A handful of cases have been reported in adults, although systemic symptoms are not typically found in this population.

Answer 75

►E Fifth disease is caused by Parvovirus B19. Most cases start with prodrome of fever, malaise, headache and rhinorrhea. Cutaneous reaction follows approximately 5-7 days later with erythema of the cheeks ("slapped cheeks") and reticulate rash of the trunk and extremities.

Answer 76

►B This infant has Langerhans Cell Histiocytosis (Letterer-Siwe disease). Multisystem involvement may be present. Jacquet's Erosive Dermatitis presents with severe erosive papules in the diaper region, and is multifactorial in etiology (yeast, irritant dermatitis, moisture). Acrodermatitis enteropathica (zinc deficiency) presents with brown, orange crusted plaques with vesicles and bullae, especially in perineal and perioral areas and distal extremities. The inherited form occurs when the infant is weaned off of breast milk. Biotin deficiency presents similarly; the neonatal form is attributed to an AR defect in holocarboxylase synthetase.

Answer 77

►C Kawasaki disease, also called mucocutaneous lymph node syndrome, is an acute febrile disorder based on the clinical criteria of changes in peripheral extremities, polymorphous exanthema, conjunctival injection without exudates, changes in the lips or oral cavity, acute cervical lymphadenopathy. Fever must be present, lasting more than 5 days. Treatment is aimed to prevent coronary aneurysms and myocardial infarction. Treatment for acute Kawasaki disease is intravenous immunoglobulin 2 g/kg over 10-12 hours and aspirin therapy.

Answer 78

►B Parvovirus is the only ssDNA virus listed.

Answer 79

►C Deafness may occur in up to 50% of infants with congenital rubella syndrome.

Answer 80

►E Osteopathia striata (vertical striations in the metaphysis of long bones on x-ray) is seen is greater than 80% of cases of focal dermal hypoplasia (or Goltz syndrome). Polyostotic fibrous dysplasia with recurrent fractures is seen in McCune-Albright syndrome. Sphenoid wing dysplasia and thinning of long bone cortex is found in neurofibromatosis I. Osteopoikilosis is an asymptomatic x- ray finding in patients with Buschke-Ollendorf syndrome. Osteopoikilosis reflects ectopic calcification that does not increase risk of fracture. Bifid ribs, vertebral fusion/Sprengel deformity of the spine, and kyphoscoliosis can be seen in basal cell nevus syndrome (Gorlin's syndrome).

Answer 81

►D In children, purpura fulminans may have several causes. It is a highly characteristic feature of meningococcal septicemia and may occur as a sequel to a number of infections, including streptococcal infections, varicella, and measles. In the neonate, however, its occurrence is highly suggestive of homozygous protein C deficiency.

Answer 82

►B The "hair collar sign" is associated with ectopic brain tissue and is thought to arise from a congenital herniation through the skull. Caution must be used in evaluation as biopsy or needle aspiration may lead to retrograde infection.

Answer 83

►E The bright red erythema of perianal streptococcal disease can also involve the creases of the groin and axillae.

Answer 84

►A Fibromatosis colli affects the lower sternocleidomastoid muscle that my arise from birth trauma. These occur in the pediatric patients and can spontaneous remit.

Answer 85

►D Letterer-Siwe primarily affects children under age 2. Hand-Schuller-Christian represents the triad of diabetes insipidus, bone lesions, and exophthalmos. Hashimoto-Pritzker is characterized by a self- resolving widespread eruption. Langerhans cell histiocytoses stain positively for CD1a and S100 but not for HAM56 and CD68.

Answer 86

►A Erythema toxicum neonatorum is a very common eruption in healthy newborns. A gram stain reveals sterile pustules containing eosinophils.

Answer 87

►E Wimberger's sign is a sign of early postnatal congenital syphilis (occurs < 2 years old). All other choices are signs of late postnatal congenital syphilis. Wimberger's sign is a radiographic sign showing a sawtooth appearance of the proximal tibia. Clutton's joints are nontender and represent synovitis with effusions of the knees and elbows. Higoumenaki's sign is a unilateral clavicular enlargement secondary to periostitis. Hutchinson's teeth are centrally notched, wide spaced, peg shaped upper incisors. Saber shins are anterior bowing of the tibia.

Answer 88

►C Linear IgA Bullous Dermatosis is due to a target antigen that is a 97 kD protein which is a member of BPAG-2. Transient bullous dermolysis of the newborn is due to a transient defect in intracytoplasmic packaging or in the transport of type VII collagen within basal keratinocytes. Neonatal pemphigus is due to maternal transfer of IgG antibodies reacting to Desmoglein 3 (pemphigus vulgaris). Epidermolysis bullosa simplex is due to keratin 5/14 abnormalities and junctional EB (Herlitz) is due to defects in Laminin 5.

Answer 89

►D This unique presentation of parvovirus infection typically occurs in adolescents and young adults.

Answer 90

►A Ichythosis vulgaris and hyperlinear palms are both independent minor criteria for the diagnosis of atopic dermatitis in both children and infants.

Answer 91

►D The diagnosis of zinc deficiency should be consideredi in at-risk individuals with acral or periorificial dermatitis. Chronic diaper dermatitis in an infant should lead to the evaluation for zinc deficiency. A low serum zinc level can usually confirm the diagnosis. If normal or near normal a low serum alkaline phosphatase, a zinc-dependent enzyme, may be a valuable adjunctive test.

Answer 92

►E The most likely diagnosis is acrodermatitis enteropathica. Alkaline phosphatase is a zinc dependant enzyme that is decreased in response to low serum zinc levels.

Answer 93

►C The condition shown in an example of eczema herpeticum, also called Kaposi varicelliform eruption. It occurs when pre-existing dermatitis becomes superinfected with a viral infection, most commonly atopic herpes infection of atopic dermatitis. The initial treatment of choice is antiviral medications.Oral acyclovir is accpetable if the patient is able to swallow and is not clinically deteriorating, otherwise IV acyclovir is necessary.

Answer 94

►D This patient has type IV phakomatosis pigmentovascularis characterized by a port-wine stain, Mongolian spot, and nevus spilus. All types have a nevus flammeus. In addition, type II demonstrates a Mongolian spot (may be associated with granular cell tu mor), type III a nevus spilus, and type V cutis marmorata telangiectasia. Type II-IV can also have a nevus anemicus. Phakomatosis pigmentovascularis is thought to be caused by the "twin spot" phenomenon. Type I: CM + epidermal nevus Type II: CM + dermal melanocytosis +/- nevus anemicus Type III: CM + nevus spilus +/- nevus anemicus Type IV: CM + dermal melanocytosis + nevus spilus +/ nevus anemicus. (ie types II+III) Type V: CM + cutis marmorata

Answer 95

►D The association of port-wine stain on a limb with soft tissue swelling with or without bony overgrowth is Klippel-Trenuanay syndrome. Klippel-Trenaunay syndrome is characterized by the Triad of port-wine malformations in association with deep venous system malformations, superficial varicosities, and bony and soft tissue hypertrophy. Sturge-Weber syndrome has 2 essential components: Facial port-wine stain and homolateral leptomeningeal angiiomattosis. The port wine stain most commonly involves the areas innervated by the ophthalmic(V1) and maxillary (V2) divisions of the trigeminal nerve. Complications of leptomeningeal angiomatosis are epilepsy, mental retardation, and occasionally, contralateral hemiplegia. Proteus Syndrome is characterized by vascular malformations including nevus flammeus, hemihypertrophy, macrodactyly, verrucous epidermal nevus, soft-tissue subcutaneous masses, and cerebriform overgrowth of the plantar surface. Bannayan Riley Ruvalcaba syndrome may include multiple cutaneous and visceral venous, capillary, and lympathtic malformations, macroephaly, pseudopapilledema, systemic lipoangiomatosis, spotted pigmentation of the penis, hamartomatous intestinal polyps, and rarely trichilemmonmas. (multiple subcutaneous lipomas as well as acanthosis nigricans).

Answer 96

►D Signs of congenital syphilis include rhinorrhea, snuffles, rhagades, condylomata lata, and mucous patches. Condylomata lata or a generalized papulosquamous eruption of secondary syphilis may be present in diaper area.

Answer 97

►B Psammomatous melanotic schwannomas have been described in the Carney complex, a defect in the tumor suppressor gene, PRKAR1A.

Answer 98

►D Acne which develops within the first 30 days of life is termed neonatal acne. Neonatal acne has a predilection for the face, chest, back and groin appearing as small, discrete papules at 2 to 4 weeks of age, and persisting for up to 8 months. As these lesions are self-resolving, no treatment is necessary, though 2.5% benzoyl peroxide may hasten resolution. Neonatal acne is quite common and is postulated to occur as a result of hyperplasia of premature sebaceous glands coupled with transient increases in circulating androgens. More recent data suggests that Malassezia species may be implicated at etiologic factors in neonatal acne therefore ketoconazole is a treatment. These organisms have been cultured from the skin of affected patients, though their exact role in unclear.

Answer 99

►D Extensive facial hemangiomas are a component of the PHACES syndrome.

Answer 100

►C In neonatal cephalic pustulosis (neonatal acne), papules and pustules are present but comedones are absent. Spontaneous remission occurs.

Answer 101

►A Recent reviews have identified trichoblastoma as the most common tumor arising within nevus sebaceous.

Answer 102

►B Desquamation of the fingertips is commonly associated with infections with group A betahemolytic Strep and Staph aureus, including scarlet fever, perianal Strep, Staph scalded skin syndrome, and toxic shock syndrome. Thus ASO titer would be indicated in this case. Fingertip desquamation is also a manifestation of Kawasaki disease.

Answer 103

►D The X-linked recessive Menkes kinky hair syndrome is associated with multiple hair shaft abnormalities, most characteristically, pili torti.

Answer 104

►A Cherubism is an autosomally-dominant inherited disorder characterized by asymptomatic fibro- osseous hyperplasia and replacement of normal bone which commences in childhood. Typically the mandible is affected, leading to progressive enlargement and swollen “cherub-like” cheeks. Similar involvement of maxillary bones results in periorbital enlargement, resulting in the tendency of affected individuals to “look up towards the sky.” Frequently the disorder is self- limited and self- regressive. Mutations in SH3BP2 have been identified as a candidate gene defect. Affected individuals may also present with single or multiple giant cell epulides (singular: epulis), which is a benign, bluish-red nodule arising on the gingiva, near deciduous incisors or bicuspids. It bears histologic similarity to giant cell tumor of the tendon sheath.

Answer 105

C Cardiac aneurysm is a serious complication of Kawasaki‟s disease. However, as the cardiovascular manifestations generally present 1 –5 months after presentation, they are not criteria for diagnosis.

Answer 106

►D The defective gene is ataxia-telangiectasia (Louis-Bar syndrome) is the ATM gene, which is responsible for DNA repair, especially after ionizing radiation. Tumor suppressor genes mutations are responsible for basal cell nevus syndrome, xeroderma pigmentosum, Muir-Torre syndrome, dyskeratosis congenita, Gardner syndrome, Peutz-Jeghers syndrome, Cowden syndrome, and MEN syndromes. Connexins are gap junction proteins that are responsible for intercellular communication and signaling. Mutations in connexins are responsible for Vohwinkel syndrome and erythrokeratoderma variabilis .Mutations in the cholesterol biosynthesis pathways cause CHILD syndrome and Conradi -Hunermann syndrome. Tranglutaminase 1 (TGM 1) is involved in the normal cross-linking of structural proteins in the protein and lipid envelope of the upper epidermis. TGM 1 is mutated in lamellar ichthyosis and congenital ichthyosiform erythroderma.

Answer 107

►C Aplasia cutis congenita is characterized by the absence of a portion of skin, most commonly presenting as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. The lesions are non-inflammatory and well demarcated appear as an atrophic, membranous, ulcerated area with alopecia. The condition may be associated with other physical anomlies.

Answer 108

►E Hypertrophy or atrophy of the affected limb is the most likely consequence of cutis marmorata telangectatica congenita. Orthopedic evaluation should be a part of the patient‟s routine management.

Answer 109

►D This periumbilical eruption is classic for a contact nickel allergy. The metal snaps on pants are the cause in this case.

Answer 110

►A Osteoma cutis in a child is associated with Albright‟s hereditary osteodystrophy (pseudohypoparathyroidism), which is caused by a mutation in GNAS1. Albright hereditary osteodystrophy is characterized by including short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. AHO is often associated with pseudohypoparathyoidism, hypocalcemia, and elevated PTH levels (PHP Ia) (OMIM, 103580). NSDHL is defective in CHILD syndrome, PTEN in Cowden‟s syndrome, SPINK5 in Netherton‟s syndrome and SLURP1 in Mal de Maleda.

Answer 111

►E neonatal lupus erythrematosus(NLE) is a form of subacute cutaneous lupus erythrematosus(SCLE) that occur in infants whose mothers have anti-Ro autoantibodies. Unlike SCLE in adults, lesions of NLE have a predilection for the face especially periorbital region. Other sites include scalp, arms, legs, trunk and groin.

Answer 112

►A PHACES syndrome represents posterior fossa malformations, hemangiomas, arterial abnormalities, cardiac abnormalities, eye abnormalities, and sternal defects. Facial hemangiomas are most often on the left-side of the face. The majority of reported cases are female.

Answer 113

►D Subcutaneous fat necrosis of the newborn is rare and self-limited. It is thought to result from perinatal stress and resolves in 3-6 months. Treatment is usually not necessary unless hypercalcemia develops.

Answer 114

►D Papular acrodermatitis of childhood (Gianotti-Crosti syndrome) typically affects children 6 months to 10 years of age, and is characterized by symmetric papules (and sometimes papulovesicles) involving the face and buttocks (“four cheeks”) and extensor surfaces of the upper and lower extremities. Lesions tend to be asymptomatic. Multiple infectious etiologies have been implicated, including Epstein-Barr virus (most common in the U.S.) and hepatitis B (most common in Europe). However, the eruption is most often self-limited, resolving in 4 to 8 weeks, and thus further work- up (e.g. testing for hepatitis) is indicated only if additional clinical symptoms are present.

Answer 115

►D Hemangiomas of infancy occur more commonly in girls, in Caucasians, in babies who are premature and low birth weight. They are more likely to occur in multiple gestation

Answer 116

►E The majority of cases of guttate psoriasis occur in persons under the age of 30.

Answer 117

►D This child has Kawasaki's disease, or mucocutaneous lymph node syndrome. Other features include conjunctival injection and extremity erythema and edema. Twenty-five percent of untreated patients go on to develop coronary artery aneurysms. Treatment is with IVIG and aspirin.

Answer 118

►A Accessory tragus is the most common congenital defect of the external ear and linked to maldevelopment of the first branchial arch. It can be associated with several syndromes including Goldenhar syndrome, in which epibulbar dermoid and vertebral defects are also common. An accessory tragus usually it appears as a small skin-colored tag or nodule arising near the tragus; it is composed of normal epidermis with dermal adipose tissue, pilosebaceous units, eccrine glands, elastic fibers, and cartilage.

Answer 119

►C The most common presentation of collodion baby is lamellar ichthyosis, followed by congenital ichthyosiform erythroderma. Patients with ichthyosis vulgaris and x-linked ichthyosis are normal at birth. Bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis presents with widespread bullae, erthroderma, and denuded skin. Sjogren-Larsson presents with generalized ichthyosis and erythroderma in infancy. It is important to know the at-birth presentations of all the disorders of cornification.

Answer 120

►D The Brooke-Spigler syndrome is defined by the presence of multiple trichoepitheliomas and cylindromas.

Answer 121

►A The well-defined erythematous plaque is an example of psorisis in the diaper area. The moist nature of the diaper environment results in a loss of the classic silvery scale.

Answer 122

►D Pityrosporum Folliculitis is often associated with oral corticosteroid use such as prednisone, diabetes and other immune suppressed states. It presents as 1-2mm pruritic monomorphic papules and pustules on chest, back, upper arms, sometimes face.

Answer 123

►B Roseola is caused by Human Herpesvirus 6, a double stranded DNA virus.

Answer 124

►D This patient has Beckwith-Wiedemann syndrome, a sporadic condition that is also known as exomphalos-macroglossia-gigantism syndrome. It also features a midline capillary malformation, linear earlobe creases, intestinal malrotation, and other tumors such as rhabdomyosarcoma an hepatoblastoma.

Answer 125

►C The diagnosis here is neonatal lupus erythematosus. Babies are normal at birth and develop skin lesions within the few months of life. About half of these babies will have an associated congenital heart block, usually 3rd degree, which is permanent. Most infants with NLE are girls and are born to mothers who are Ro/La positive. There is a 25% chance that a second child born to the same mother will have NLE.

Answer 126

►D Exanthem subitum (roseola or Sixth disease) is caused by HHV6, a dsDNA virus. It presents with high fever for several days followed by an exanthem of erythematous macules and papules on the trunk that begins as the fever ends. An associated enanthem of red macules/streaks on the soft palate may be seen. Koplik spots are seen in measles; the red strawberry tongue (following the white strawberry tongue) is seen in Scarlet fever; chapped lips and dry, red mucosa may be seen in Kawasaki's disease; palatal erosions may be seen in Papular-purpuric gloves and socks syndrome.

Answer 127

►A The etiology of granuloma gluteale infantum is multifactorial, resulting from the unique environment of the diaper area. Treatment consists of topical antifungal agents, barrier creams, and anti-inflammatory agents as needed.

Answer 128

►A The child in the photo depicts the “Statue of Liberty” sign of unilateral laterothoracic exanthem.

Answer 129

►C Niemann-Pick disease is an autosomal recessive disease caused by mutations in sphingomyelin phosphodiesterase-1. Patients with Type A Niemann-Pick disease have onset in infancy and die by 3 may have xanthomas, progressive psychomotor deterioration, hepatosplenomegaly, blindness, cherry red spots, and deafness. Type B is the late onset non-neurologic form that only involves the viscera and patients survive into adulthood.

Answer 130

►C In the treatment of infantile hemangiomas with propranolol, the most common serious adverse effects are bradycardia and hypotension. Other potential adverse effects include bronchospasm and hypoglycemia. Sustained hypoglycemia in infancy has been associated with longterm neurologic sequelae. Infants with very large hemangiomas or miliary hemangiomatosis are also at risk for high- output cardiac compromise.

Answer 131

►C Pachyonychia congenita type 2 may be associated with natal teeth and steatocystoma. Pachyonychia congenita type 1 is associated with benign leukoplakia.

Answer 132

►D The acronym POEMS stands for polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes.

Answer 133

►A The newborn most likely has aplasia cutis congenita. A MRI would be the best means of imaging to evaluate for any underlying bony abnormality. The infant does not need unnecessary radiation.

Answer 134

►C X-linked ichthyosis is characterized by small, dark, firmly adherent scales accentuated on the sides of the neck and trunk. The face, palms, soles, antecubital and popliteal flexures are generally spared. Associated extracutaneous findings include corneal opacities (50%), undescended testes (20%), and prolonged maternal labor (usual). Neurological or mental retardation are rare but documented associations as XLI can be associated with a contiguous gene syndrome with Kallman syndrome, mental retardation and X linked recessive chrondrodysplasia punctata.

Answer 135

►E Roseola typically appears in toddlers. A high fever followed by a generalized maculopapular rash is characteristic for this HHV6 infection.

Answer 136

►D The picture depicts tinea faceii. A KOH exam should be performed to look for hyphae.

Answer 137

►A Adams Oliver syndrome is characterized by severe aplasia cutis congenita, cutis marmorata telangiectatica congenita, limb defects and atrial septal defect. Aplasia cutis congenital is characterized by an absence of skin and subcutaneous tissue.

Answer 138

►A The “coast of Maine” café au lait macule is associated with McCune-Albright syndrome and polyostotic fibrous dysplasia.

Answer 139

►D Nevus sebaceus can very rarely be associated with multiple anomalies. Schimmelpenning syndrome can include seizure disorder, mental retardation, coloboma, as well as skeletal, cardiac and genitourinary abnormalities.

Answer 140

►B Trichothiodystrophy or PIBIDS is associated with the “tiger-tail” abnormality of trichoschisis.

Answer 141

►A The majority of patients with accessory tragii do not have any associated abnormalities. Multiple anomalies, including deafness and midline defects, have been reported but are rare.

Answer 142

►A Gianotti-Crosti syndrome is also known as papular acrodermatitis of childhood. The eruption is characterized by lichenoid papules in an acral distribution.

Answer 143

►D This baby has developed erythema toxicum neonatorum, a benign, self-limited eruption that occurs in the majority of healthy, full-term infants. Erythema toxicum usually develops on the second or third day of life and resolves by day 10. A smear taken from one of the pustules will demonstrate eosinophils, which is sufficient to make the diagnosis. Viral infections of the skin may demonstrate multi-nucleated giant cells on Tzanck smear. Transient neonatal pustular melanosis is present at birth; neonates present with small, superficial pustules that rupture easily. Some may have ruptured in utero, leaving pigmented macules. The pigmentation may persist for weeks to months in darkly- complexed infants. A smear of the intracorneal/subcorneal pustule will show mostly neutrophils, but eosinophils may also be present.

Answer 144

►A Thrombocytopenia and transaminitis are associated with neonatal lupus and may indicate a worse prognosis.

Answer 145

►C Phakomatosis Pigmentovascularis: Patients with a combination of vascular malformations and melanocytic or epidermal nevi are grouped into 4 subtypes of this disorder. All have nevus flammeus/capillary malformation (CM). Type I: CM + epidermal nevus Type II: CM + dermal melanocytosis +/- nevus anemicus Type III: CM + nevus spilus +/- nevus anemicus Type IV: CM + dermal melanocytosis + nevus spilus +/- nevus anemicus. (ie types II+III) Type V: CM + cutis marmorata

Answer 146

►A The enanthem of measles precedes the morbilliform eruption.

Answer 147

►C This patient must be evaluated thoroughly for PHACES syndrome. PHACES is an acronym for Posterior fossa malformations (Dandy-Walker malformation is most common), Hemangiomas, Arterial anomalies, Coarctation of the aorta, Eye abnormalities, and Sternal cleft defects. This patient should have a complete cardiac evaluation, neuroimaging, and ophthalmologic exam. If the facial hemangioma involves the beard area, this may indicate laryngeal involvement and appropriate imaging and evaluation is mandated. Propranolol is the treatment of choice however, caution must be taken if there is coarctation of the aorta and cardiology is often involved. Systemic steroids at high doses (5 mg/kg) can be considered if propranolol fails (it usually doesn't). If caught early, the sequelae of PHACES syndrome can be minimized.

Answer 148

►B This condition is deficiency of the interleukin-1-receptor antagonist (DIRA) and due to a mutation in the IL1RN gene. Muckle-Wells syndrome is due to a mutation in the CIAS1 gene and presents with sensorineural deafness, recurrent hives, and amyloidosis. Familial Mediterranean fever is most often due to a mutation in the MEFV gene. Hyper-IgD syndrome is a rare periodic fever syndrome characterised by attacks of fever, arthralgia, skin lesions including cyclical mouth ulcers, and diarrhea due to mutations in the mevalonate kinase gene. PAPA syndrome presents with pyogenic arthritis, pyoderma gangrenosum and acne and is associated with mutations in the CD2 binding protein 1 (CD2BP1).

Answer 149

►D D. is Correct. Hemangiomas of infancy occur more commonly in girls, in Caucasians, in babies who are premature and low birth weight. They are more likely to occur in multiple gestation

Answer 150

►D Women with epidermal nevi with epidermolytic hyperkeratosis histologically are at risk for offspring with the “full-blown” epidermolytic hyperkeratosis syndrome, which is due to Keratin 1/10 defects. Transglutaminase defects are seen in lamellar ichthyosis, Keratin 6a/16 and 6b/17 in Pachyonychia congenita types I and II and Keratin 2e in Ichthyosis bullosa of Siemens.

Answer 151

►D Lymphadenopathy with 1-7 days of malaise is commonly described with rubella infection. A rose- pink macular rash follows the prodrome.

Answer 152

►A Immunodeficiency disorders may be associated with a variety of cutaneous abnormalities, and recognition of these clinical features may allow an early diagnosis of primary immunodeficiency. Cutaneous abnormalities may include cutaneous infections, atopic- or seborrheic-like dermatitis, macular erythemas, alopecia, poor wound healing, purpura, petechiae, telangiectasias, pigmentary dilution, cutaneous granulomas, extensive warts, angioedema, and lupus-like changes. Leiner's disease or erythroderma desquamativum is a complication of seborrheic dermatitis in infants (dermatitis seborrhoides infantum) There is usually a sudden confluence of lesions, leading to a universal scaling redness of the skin (erythroderma). The young patients are severely ill with anemia, diarrhea, and vomiting.The disease is both a familial and a nonfamilial form. The former is noted for having a functional deficiency of C5 complement, resulting in defective opsonization. These patients respond to antibiotics and infusions of fresh frozen plasma or whole blood. The other choices in the questions can all be associated with atopic -like dermatitis.

Answer 153

►C Langerhans cells are CD1 and S100 positive. The nuclei are described as kidney shaped, or reniform.

Answer 154

►B Mastocytosis comprises a group of diseases characterized by increased number of mast cells in the skin and other organs. Seventy-five percent of cases occur before the age of 2. Patients with mastocytosis should avoid potential mast degranulators including aspirin, codeine, opiates, procaine, spicy foods, cheese, alcohol, polymyxin B.

Answer 155

►B In acrodermatitis enteropathica, there is decreased absorption of zinc from the infant”s gastrointestinal tract. The zinc in breast milk has greater availability than nonmaternal sources thus protecting the child from disease expression until weaning.

Answer 156

►C Acrodermatitis enteropathica is a rare inherited disorder transmitted in an autosomal recessive fashion. The disorder is caused by an inability to absorb zinc. the clinical syndrome is characterized by acral dermatitis, alopecia, and diarrhea. Zinc deficiency from other causes (including chronic wasting, poor oral intake, lack of supplementation in total parenteral nutrition) can cause similar clinical changes.

Answer 157

►E Jacquet”s diaper dermatitis is a multifactorial process. Yeast, irritants and moisture all contribute to the occurrence of this eruption.

Answer 158

►A A PRKAR1A gene defect is associated with the Carney complex.

Answer 159

►E Gianotti-Crosti, or papular acrodermatitis of childhood, is typically nonpruritic and corticosteroids should be avoided as they may have adverse effect. All the other statements are true. The condition typically resolves after 2-3 weeks.

Answer 160

►A A LMX1B gene defect is associated with nail patella syndrome.

Answer 161

►C Transient neonatal pustular melanosis typically begins with sterile pustules that leave a characteristic collarette when ruptured. The lesions heal with hyperpigmented macules.

Answer 162

►A The scalp change seen in pachydermoperiostosis is cutis verticis gyrata.

Answer 163

►D The lesions shown in the photo are papules of infantile acne which occurs between the ages of 6mo to three years. The infants get comedones, papules and pustules. Topical tretinoin would be the best treatment option.

Answer 164

►A The answer is dermatomyositis with the heliotrope color and distribution of erythema or violaceous color. The skin over the metacarpal and proximal interphalangeal joints can become inflamed and erythematous forming Gottron‟s papules.

Answer 165

►B The image shown is juvenile xanthogranuloma. The most commonly associated malignancy is chronic myelogenous leukemia. Other associations include Neurofibromatosis type 1 and aquagenic pruritus.

Answer 166

►C PHACES syndrome consists of posterior fossa defect, hemangiomas (often segmental and large), arterial defects, cardiac defects, eye abnormaliteis, and sternal clefting. Posterior fossa defects include the Dandy-Walker malformtion.

Answer 167

►E Linear nevus sebaceous syndrome, also known as Schimmelpenning-Feuerstein-Mims syndrome, may be associated with hypophospatemic, vitamin D resistant rickets.

Answer 168

►D The correct answer is infantile hemangioma, which reliably displays GLUT-1 positivity. GLUT1 stains infantile hemangioma with high sensitivity and specificity. Glomus tumor, capillary vascular malformation (also called port-wine stain), salmon patch, and angel's kiss are other vascular lesions that do not stain with GLUT-1.

Answer 169

►E Hemangiomas show GLUT-1 positivity and stain positively with placental markers.

Answer 170

►C Hemangiomas are benign vascular tumors which have proliferating phase and then a spontaneous involution phase. Depending upon the location, some hemangiomas may have more long term sequelae such as scarring or structural malformation, and rarely, consumptive coagulopathy. Infants with hemangiomas of the “beard” distribution should be evaluated for subglottic hemangiomas which may lead to airway obstruction.

Answer 171

►A Wiskott-Aldrich syndrome is an X-linked recessive disorder caused by mutations in WAS gene. Patients with Wiskott-Aldrich may have unstable sialoglycoprotein CD 43 on the surface of lymphocytes. Patients with Wiskott-Aldrich have atopic dermatitis with increased risks for secondary infection, thrombocytopenia, and recurrent bacterial infections. They are also at an increased risk for lymphoreticular malignancy (20%).

Answer 172

►D Gianotti-Crosti or papular acrodermatitis of childhood is associated with a variety of viral infections. Patients have a typical cutaneous manifestation, low-grade fever, mild lymphadenopathy and diarrhea. Corticosteroids should be avoided as they may have an adverse effect.

Answer 173

►E Fifths Disease or erythema infectiosum, is caused by parvovirus B19, a single-stranded DNA virus. There are a few clinical presentations including, diffuse lacy rash on the trunk that spreads gradually toward the distal extremities, papular-pruritic "gloves-and-socks" syndrome and aplastic crisis which does not have concomitant rash.

Answer 174

►B A patient with Neurofibromatosis type I and JXG‟s present is at increased risk for JMML. Medulloblastomas are increased in patients with Basal Cell Nevus syndrome. Pancreatic carcinoma occurs at an increased risk in patients with mutations in CDKN2A in the familial melanoma syndrome.

Answer 175

►A The bullous lesions represented are nonscarring and are associated with obvious nail dystrophy. Epidermolysis bullosa simplex, Dowling-Meara type, is the best option.

Pediatric Dermatology Flashcards

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