Neonatal Dermatology

Question 1

Describe aplasia cutis congenita.

Answer 1

Aplasia cutis congenita is a congenital absence of skin most commonly presenting as a solitary, vertex scalp lesion without hair.

Question 2

What are some complications that can be associated with the presence of aplasia cutis congenita?

Answer 2

~20% of infants with aplasia cutis congenita have underlying skull anomalies. Larger or midline defects can have underlying bony defects or vascular abnormalities. Midline scalp lesions that are encircled by thicker, darker hair (“hair collar sign”) suggest cranial dysraphism. MRI is needed in this situation to rule out underlying pathology.

Question 3

What are milia?

Answer 3

Milia are 1-2mm firm, white, epidermal inclusion cysts most commonly found on the face. They are benign and generally resolve spontaneously over several months.

Question 4

What are Epstein pearls?

Answer 4

Epsein pearls are 1-2mm firm, white, inclusion cysts located on the hard palate of the newborn. They are benign and resolve spontaneously over several months.

Question 5

What are Bohn nodules?

Answer 5

Bohn nodules are 1-2mm firm, white, intraoral inclusion cysts located on the alveolar ridges of the newborn. They are benign and resolve spontaneously over several months.

Question 6

Describe sebaceous hyperplasia.

Answer 6

Sebaceous hyperplasia typically presents as multiple pinpiont, wite-yellow papules, usually on or around the nose and upper lip. Caused by exposure to androgens in-utero, resolves spontaneously during the first few weeks of life.

Question 7

How does neonatal acne differ from infantile acne?

Answer 7

While comedones are absent in neonatal acne, both open and closed comedones may be present in infantile acne.

Question 8

Describe the appearance, natural course, and treatment of neonatal acne.

Answer 8

Neonatal acne presents as erythematous papules and pustules distributed on the face and scalp within the first 2-4 weeks of life. Comedones are absent and the condition typically resolves spontaneously within the first 1-2 months of life. Treatment consists of daily cleansing with soap and water and the condition does not cause scarring.

Question 9

Describe the appearance of infantile acne.

Answer 9

Characterized by papules and pustules located primarily on the face. Open and closed comedones are present. Cysts and nodules can also occur. Can cause scarring.

Question 10

Describe the natural course of infantile acne.

Answer 10

More common in males. Usually presents around 2-4 months of age and resolves over 6-12 months but can cause scarring so treatment is recommended.

Question 11

Describe the treatment of infantile acne.

Answer 11

Topical acne medications such as retinoids, benzoyl peroxide, and/or antibiotics are the usual first line treatment options. Systemic erythromycin and istretinoin can be used in severe cases.

Question 12

What is miliaria rubra?

Answer 12

Pinkish-red papulovescicles which result from obstruction of the sweat glands at the level of the mid-epidermis. AKA prickly heat rash.

Question 13

Describe the typical presentation of erythema toxicum neonatorum and identify which type of WBC is involved.

Answer 13

Common, self-limited condition occurring in the first few days of life and resolving within the first week of life. Almost exclusively affects term newborns. Consists of small, pink pustules surrounded by a pink wheal which wax and wane and can appear anywhere on the body. Pustules contain eosinophils.

Question 14

Which type of WBC is found in transient neonatal pustular melanosis (TNPM)?

Answer 14

Neutrophils

Question 15

Describe the typical presentation of transient neonatal pustular melanosis (TNPM).

Answer 15

Presents at birth as pustules on a non-erythematous base that transform into scaly, hyperpigmented macules of uniform size. It occurs in 2-5% of African American neonates and the hyperpigmented macules can persist for several months.

Question 16

Describe the cutaneous manifestations of candidiasis in the neonate.

Answer 16

It presents as a beefy-red, moist, dermatitis with satellite papules and pustules in the diaper area or white, partially adherent plaques in the mouth (thrush).

Question 17

Describe the cutaneous manifestations of impetigo in the neonate.

Answer 17

Impetigo can present as a single lesion or numerous lesions and can be bullous or nonbullous. It is characterized by red crusted papules and pustules (nonbullous) or flaccid coalescent pustuleswith bullae overlying otherwise normal skin (bullous).

Question 18

Describe the cutaneous manifestations of congenital rubella in the neonate.

Answer 18

Congenital rubella presents as blue-purple macules or papules and is especially prevalent on the abdomen and trunk.

Question 19

Describe the cutaneous manifestations of herpes simplex in the neonate.

Answer 19

HSV presents as grouped vesicles on an erythematous base and can be localized or broadly distributed.

Question 20

Describe the physical exam manifestations of congenital syphilis in the neonate.

Answer 20

Pink, scaly macules and papules (often on palms and soles); rhinitis with ulceration of the nasal mucosa; saddle nose deformity; perioral radial furrowing of the skin; Hutchinson teeth; “saber shins”; thickening of the medial clavicle.

Question 21

Describe the cutaneous manifestations of listeria monocytogenes in the neonate.

Answer 21

Cutaneous symptoms are rare, but when present include hemorrhagic pustules, purpura, and petechiae.

Question 22

What is the most common tumor of infancy?

Answer 22

Infantile hemangioma

Question 23

In which populations are infantile hemangiomas more common?

Answer 23

Premature infants, multiple gestations, females (female:male ratio is 3:1).

Question 24

What complications should you watch out for if hemangiomas occur in the periorbital area?

Answer 24

Periorbital lesions have an associated 80% risk of occular complications, including astigmatism, amblyopia, refractive errors, and occasionally blindness.

Question 25

What are the possible complications for hemangiomas involving the mandible, chin, or submental areas (“beard lesions”)?

Answer 25

There is a risk for airway involvement, with complications occuring most commonly during the proliferative phase. Look for stridor, cough, and swallowing or respiratory difficulties.

Question 26

What should you be concerned for in infants with large, segmental, facial hemangiomas?

Answer 26

PHACE(S) syndrome: Posterior fossa abnormalities (Dandy-Walker syndrome), Hemangioma (large, cervicofacial, involving CN3 distribution, Arterial anomalies (usually intracerebral), Cardiac defects (often coarctation of the aorta), Eye abnormalities (microphthalmia), Sternal defects/Supraumbilical raphe

Question 27

What are the possible complications for hemangiomas involving the ear?

Answer 27

Risk of obstruction of the external auditory canal and associated conductive hearing loss.

Question 28

What are the possible complications for hemangiomas involving the nose and lips?

Answer 28

There is a greater tendency to ulcerate or interfere with feeding. There is also a greater risk for cosmetic deformity.

Question 29

What are the possible complications for hemangiomas involving the midline lumbosacral region?

Answer 29

There is an increased risk for spinal dysraphism and GU anomalies. These infants should be evaluated for underlying spinal cord abnormalities with lumbosacral US and/or MRI.

Question 30

What are the possible complications for infants with >5 cutaneous hemangiomas?

Answer 30

There is an increased risk for internal hemangiomas, especially involving the liver and GI tract. For some infants, the course is benign, but for others there is severe, disseminated, visceral involvement leading to high-output heart failure, hepatic complications, GI hemorrhage, and consumptive hypothyroidism.

Question 31

Describe the presentation and natural course for nevus simplex.

Answer 31

Pink-to-red blanching patches present on half of all newborns, usually on the face or nape of the neck. They usually fade with time, although the nuchal patches tend to persist. AKA “salmon patch”, “angel kiss”, and “stork bite”.

Question 32

Infants born with port-wine stains in which locations are at risk for Sturge-Weber syndrome?

Answer 32

Infants born with port-wine stains along the ophthalmic distribution of the trigeminal nerve are thought to be at the highest risk. Anyone with a segmental PWS involving the frontotemporal, hemifacial, or median distribution should be closely monitored.

Question 33

What is Sturge-Weber syndrome?

Answer 33

Sturge-Weber syndrome is a congenital syndrome comprised of a large facial port wine stain with ipsilateral cerebral vascular malformations leading to potential neurologic complications such as: seizures, intellectual disability, contralateral hemiplegia, and ophthalmologic findings (classically glaucoma and choroidal vascular anomalies).

Question 34

What additional workup is indicated for infants born with large facial port wine stains?

Answer 34

These infants should undergo a complete ophthalmologic exam and imaging of the head to assess for Sturge-Weber.

Question 35

What is Klippel-Trenaunay syndrome?

Answer 35

KTS is characterized by port wine stains of the lower extremities. It presents with vascular malformations (often mixed capillary-venous-lymphatic derivation) of an extremity and soft tissue and/or limb overgrowth that is typically progressive in nature.

Question 36

What is Parkes Weber syndrome?

Answer 36

Parkes Weber is similar to Klippel-Trenaunay (port wine stain + overgrowth of lower extremities) but also features arteriovenous malformations that have a palpable thrill and can be visualized with ultrasound. These patients can develop high-output cardiac failure and marked limb overgrowth.

Question 37

Port-wine stains of the lower extremities are associated with which syndrome(s)?

Answer 37

Klippel-Trenaunay syndrome and Parkes Weber syndrome

Question 38

What is cutis marmorata telangiectatica congenita?

Answer 38

It is a syndrome characterized by fixed, reticulated, pink-violaceous vascular patches which, in contrast to physiologic cutis marmorata, do not abate with rewarming of the skin. ~50% of affected individuals have associated developmental abnormalities (such as limb hypoplasia). They may also have vascular, ophthalmologic, or neurologic abnormalities. The cutaneous findings usually fade by 2 years of age.

Question 39

What is a nevus sebaceus?

Answer 39

A nevus sebaceus is a hamartoma that most often presents on the head or neck as a yellow-pink, hairless plaque that often has a waxy texture (***image 18-14).

Question 40

When should a nevus sebaceus be removed?

Answer 40

If there are no cosmetic concerns or concerning growths that arise within the nevus, it is acceptable to monitor it. Otherwise, definitive treatment consists of full-thickness excision.

Question 41

What is a nevus spilus?

Answer 41

Nevus spilus is relatively common and can be congenital or aquired. It presents as a well-demarcated, tan or light brown patch, usually on the trunk or extremities. Characteristically, the patches develop multiple small, dark macules and/or papules within. ***image 18-15

Question 42

What is the most concerning complication of a nevus spilus?

Answer 42

There is a very small risk of melanoma developing within a nevus spilus; however, unless there is a worrisome clinical change, no treatment is warranted.

Question 43

What are congenital melanocytic nevi?

Answer 43

They are caused by collections of melanocytes in the skin that are present at birth or within the first few months of life. The nevi are classified based on the adult size of the lesion: small (<1.5 cm), medium (1.5-20 cm), and large (>20 cm). ***image 18-16

Question 44

In an infant with a large (>20cm) congenital melanocytic nevus, during what age range is there a substantial risk of melanoma?

Answer 44

In these patients, there is a 6-8% lifetime risk of developing melanoma, especially during the first 5 years of life.

Question 45

A “bathing trunk” nevus should make you think of which diagnosis?

Answer 45

Large congenital melanocytic nevus

Question 46

What is the recommended treatment for large congenital melanocytic nevi?

Answer 46

Surgically remove large nevi due to the potential for malignant transformation and cosmetic concerns.

Question 47

What is neurocutaneous melanosis?

Answer 47

When large congenital melanocytic nevi are located over the scalp, midline neck, or spine, there may also be melanocytosis within the meninges or CNS, which is known as neurocutaneous melanosis.

Question 48

What are congenital dermal melanocytoses?

Answer 48

These are blue-grey patches, often on the lumbosacral region, that are generally present at birth. They range in size from a few millimeters to involving most of the back. They are significantly more common in people of Asian, African American, and Hispanic ethnicity and usually fade by 7-13 years of age without intervention. ***image 18-17

Question 49

What is a nevus of Ota (aka oculodermal melanocytosis)?

Answer 49

It is characterized by unilateral (rarely bilateral) blue-grey macules and patches on the face - specifically on the periorbital area, temple, forehead, cheek, nose, and/or sclera. Unlike congenital dermal melanocytoses, nevus of Ota does not resolve with time. It is more common in people of Asian and African American descent.

Question 50

What screening should be performed in patients with nevus of Ota?

Answer 50

Rarely, cutaneous and ocular melanoma can occur within the lesions, and ~10% of patients develop glaucoma; thus, periodic ophthalmologic and skin exams are recommended.

Question 51

What is a nevus of Ito (aka nevus fuscoceruleus acromiodeltoideus)?

Answer 51

Nevus of Ito is similar to nevus of Ota except that it is distributed on the shoulder, upper extremity, or neck.

Question 52

What is a blue nevus?

Answer 52

Blue nevi can be congenital or acquired (usually during childhood or adolescence) and are characterized by well-circumscribed, round or oval dome-shaped papules with smooth surfaces measuring 2-10 mm in diameter. Their appearance is often concerning for melanoma, but malignant degeneration is rare and it requires no intervention.

Question 53

How can one differentiate between a blue nevus and melanoma?

Answer 53

Normal skin markings over the lesion, homogeneity of coloration, and the smooth, well-circumscribed borders help to differentiate a blue nevus from a melanoma.

Question 54

What (4) diseases are associated with café-au-lait spots?

Answer 54

The presence of one or two lesions is normal, but large or many lesions suggest a neurocutaneous syndrome such as neurofibromatosis Type 1, Legius syndrome, McCune-Albright syndrome, and Watson syndrome.

Question 55

What two skin findings are part of the diagnostic criteria for NF1?

Answer 55

≥6 café-au-lait macules (must be >5mm prepubertal or >15mm postpubertal) and Crowe sign (small, grouped, freckle-like, café-au-lait macules measuring 1-4 mm and clustered in the axilla or groin).

Question 56

What is Crowe sign?

Answer 56

Small, grouped, freckle-like, café-au-lait macules measuring 1-4 mm and clustered in the axilla or groin. It is one of the diagnostic criteria for NF1.

Question 57

What are supernumerary nipples, and what is the suggested management?

Answer 57

Supernumerary nipples are extra nipples that occur along the embryologic milk lines of the chest and abdomen. Breast tissue is variably present. Small lesions do not usually require treatment, but large lesions with associated glandular tissue should be surgically removed, as they can grow during puberty and there have been reports of breast carcinoma arising from these lesions.

Question 58

If aplasia cutis occurs in multiple areas of the scalp, which genetic disorder should you suspect?

Answer 58

Trisomy 13