Peds AAD Questions Flashcards
1
Q
Gene in CHILD syndrome
A
NSDHL
2
Q
What does the gene in CHILD syndrome (NSDHL) encode?
A
3B-hydroxysteroid dehydrogenase (cholesterol biosynthesis pathway)
3
Q
Gene in Sjogren-Larsson Syndrome
A
FALDH
4
Q
What is the FALDH responsible for in Sjogren-Larsson syndrome
A
enzymatic conversion of fatty alcohol to fatty acid
5
Q
Mutation in Darier Ds
A
ATP2A2
6
Q
What does the ATP2A2 gene refer to in Darier Ds
A
sarcoplasmic/endoplasmic reticulum calcium ATPase type A
7
Q
What is the gene mutation in Hailey Hailey
A
ATP2C1
8
Q
What does the ATP2C1 in Hailey Hailey encode?
A
secretory ATPase pump of the golgi apparatus
9
Q
What is the mutation in x-linked icthyosis
A
ARSC1
10
Q
What does the ARSC1 gene encode
A
steroid sulfatase
11
Q
name a benign ulerative granulomatous process that occurs in rxn to chronic, repetitive trauma of the oral mucosa by the teeth (appears firm, verrucous plaques)
A
Riga-Fede disease
12
Q
What is associated with 25% of Riga-Fede cases
A
anomaly or underlying neurologic disorder
13
Q
What is the most common extracutaneous site of juvenile xanthogranuloma; second most common?
A
- Eye (usually unilateral)
- Lungs
14
Q
3 tumors of Brooke Spiegler
A
- Trichoepitheliomas
- Cylindromas
- Spiradenomas
(rare parotid or salivary tumors)
15
Q
What is the mutation in Brooke-Spigler
A
CYLD
16
Q
What does CYLD in Brooke Spiegler encode
A
tumor suppressor gene encoding an enzyme that interacts with multiple substrates of NF-kappa B
17
Q
Defect in Rapp Hodgkin
A
p63
18
Q
Rare ectodermal dysplasi with characteristic cutaneous features (unclear if distinct from ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome)
A
Rapp-Hodgkin
19
Q
Name the activating mutations in keratinocytic epidermal nevi
A
- HRAS
- FGFR3-fibroblast growth receptor 3
- PIK3CA-p110 a-subunit of PIK
- KRAS
- NRAS
20
Q
What syndrome is caused by mutation in FGFR2
A
Apert
21
Q
Name 4 features assocaited with spinal dysraphism
A
- Gluteal cleft asymmetry
- Lumbosacral infantile hemangioma
- Lumbosacral skin tag
- Midline back lipoma
(NOT a DIMPLE <5mm)
22
Q
What brachial cleft and pouch form the auditory canal, eustachian tube, middle ear, mastoid air cells
A
first brachial cleft
23
Q
What brachial clef cysts may communicate with the pharynx
A
Second, third, fourth brachial cleft cysts
24
Q
Where do accessory tragi form
A
along fusion line of the first brachial arch
25
Name the syndrome: AD genetic condition with brachial arch abnormalities, hearling loss, ear anomalies, renal anomalies?
Brachio-oto-renal syndrome
26
Name the syndrome: seizures, long face, limb asymmetries, palmar connective tissue nevi (cerebriform) pulmonary embolisms, cord compression?
Proteus Syndrome
27
Name a ds that has increased risk of high output cardiac failure
Parkes Weber
28
Name a ds with increased risk of spontaneous pneumothorax
Birt-Hogg-Dube
29
Name the ds: overgrowth of skin, bones, asymmetrical limbs, abnormally long face, low nasal bridge, cerebriform connective tissue nevi on palms/soles
Proteus syndrome
30
Associated with smooth muscle bundles and central mammary duct
supernumerary nipples
31
Where is the 'milk line'?
axilla through a traverse curvilinear fashion to anatomic nipple to the groin
32
Most common location for a supernumerary nipple
below the typical anataomic nipple on the lower chest/upper abdomen
33
Name the icthyosis: ABCA12
Harlequin Icthyosis
34
What syndrome will have a collodion membrane at birth and is associated with typical Jordan's anomaly of PMNs in blood smear? (Peripheral blood smear to detect lipid vacuoles in granulocytes, eosinophils, and monocytes)
Chanarin-Dorfmin
35
Tx of midline cervical cleft
Surgical-this is a fusion abnormality of 1st and 2nd brachial arches; surgery prevents cervical contracture
36
Name 3 syndromes associated with congenital lower lip pits
Kabuki syndrome, popliteal pterygium syndrome, Van der Woude syndrome
| (all three also a/w cleft palate)
37
Name 4 syndromes associated with sacral dimples
1. Bloom syndrome
2. Carpenter syndrome
3. Robinow syndrome
4. Smith-lemil-Optiz syndrome
38
Name a syndrome a/w micrognathia and dermatomyositis
Velo-cardio-facial syndrome
39
Name the syndrome chondrodysplasia punctata icthyosis, alopecial, nail changes, cataracts
Conradi-Hunermann-Happle
40
Name the defective protein in Conradi-Hunermann-Happle
Emopamil-binding protein
41
What enzyme is defective in Sjogren-Larsson syndrome (pruritic icthyosis, neurologic ds/spasticity with normal hair/nails)
Microsomal fatty aldehyde dehydrogenase enzyme
42
What enzyme is defective in Refsum ds (progressive neurologic changes and icthyosis)?
Phytanoyl-CoA hydroxylase
43
What is the mutation in incontinentia pigmenti (current and formerly known as)?
IKBKG (formerly known as NEMO)--impaired activation in the nuclear factor K-B pathway
44
Large birth weight and length, facial capillary malformations, macroglossia, visceromegaly with defects in the abdominal wall (umbilical hernia, omphalocele), hemihypertrophy, earlobe pits or creases, increased risk of childhood cancers, hypoglycemia
Beckwith-Wiedemann Syndrome
45
Most common tumor in Beckwith-Widedemann Syndrome? Second most common?
1. Wilm's tumor
2. Hepatoblastoma
46
Eczema, alopecia, delayed tooth eruption, inability to sweat (irritability and hyperthermia), periorbital hyperpigmentation
hypohidrotic ectodermal dysplasia
47
Genes associated with hypohidrotic ectodermal dysplasia
EDAR, EDARADD, WNT10A
48
Connexin 30 or GJB6 mutation
hidrotic ectodermal dysplasia (nail dystrophy and normal sweating)
49
Gene mutation a/w facial clefting and ectrodactyly
P63
50
Griscelli syndrome mutations
MYO5A and RAB27A
51
Triagnular lunulae
nail patella syndrome
52
Ankyloblepharon
skin attachment between the eyelids
53
AEC
ankyloblepharon-ectodermal defects-cleft lip/palate
54
EEC
Ectrodactyly-ectodermal dysplasia-clefting syndrome (syndactyly seen in this syndrome)
55
Pebbly skin tonded papules symmetrically on the scapular area of the back
Hunter syndrome (mucopolysaccharidosis type II)
56
Name 2 glycogen storage ds with extensive dermal melanocytosis
Hunter syndrome (mucopolysaccharidosis type II) and GM1 Type 1 gangliosidosis
57
Mutation in focal dermal hypoplasia (aka Goltz syndrome)
PORCN
58
Name the mutation in trichorhinophalangeal syndrome 1
TRPS1
59
Postnatal segmental overgrowth of multiple tissue (palmar connective tissue nevi, prominent subq veins, lipomas, right lower leg hemhypertrophy)
Proteus syndrome
60
Most common tumor in Proteus syndrome
Lipoma (less likely ovarian cystadenoma, meningioma, testicular tumors, parotid monomorphic adenoma)
61
Mutation in extensive phakomatosis pigmentovascularis and dermal melanocytosis
GNAQ and GNA11
62
What further evaluation should patients with extensive phakomatosis pigmentovascularis (and sturge weber) undergo?
neurologic and ophthalmologic
63
At what age does the spinal vertebra ossify
6 months
64
What brachial cleft has \>90% of the anomalies?
2nd brachial cleft
65
Where do first brachial cleft cysts occur
close to the auricle
66
Which brachial clefts are more likely to have an internal opening
3rd and 4th
67
Cutaneomeningospinal angiomatosis is aka?
Cobb syndrome
68
Name the ds: presence of dermatomal arterrovenous malformation (AVM), a fast flow intramedullary spinal AVM and a vertebral AVM in the same segment
Cobb syndrome aka cutaneomeningospinal angiomatosis
69
What abx inhibits production of bacterial toxin in SSSS
Clindamycin
70
What strains of staph cause SSSS
Phage group II (57 and 71) which produce the exfoliative toxin
71
What is the target of toxins in SSSS
desmoglein 1: disruption of the epidermal granular layer and bulla formation
72
Who is more susceptible to SSSS
infants, young children and adults with chronic renal insufficiency
73
Where does SSSS start? Spread next?
head and intertriginous areas and spreads in 1-2 days; flexures exfoliate first
-mucous membranes are NOT involved, but will have periorificial crusting and radial fissuring
74
How long can scaling and desquamation continue in SSSS?
4-7 days, but will heal without scarring
75
What is the mortality rate for SSSS in children? In adults?
3% mortality in kids
\>50% mortality in adults
76
What is the mutation that leads to capillary malformation-arteriovenous malformation (CM-AVM)
RAS-A1
77
Name 7 diseases in the PROS spectrum dt mutation in PIK3CA
1. congenital lipomatous overgrowth
2. vascular malformations
3. epidermal nevi
4. syndactyly
5. hereditary hemihyperplasia-multiple lipomatosis syndrome
6. isolated large lymphatic malformations
7. megalencephaly-capillary malformation syndrome
78
Parkes Weber vs Klippel Trenaunay
Parks Weber is fast flow AV malformations/shunts
79
T/F Patient with Klippel-Trenauny Syndrome are at risk of pulmonary embolism due to vascular malformations and hypercoagulability
True
80
What are the most common associated sx in morphea
arthralgias
81
Macrocystic lymphangioma aka \_\_\_\_\_
cystic hygroma
82
Ds associated with cystic hygroma
Turner syndrome (also Down syndrome and noonan and achondroplasia)
83
Rare but dangerous complication of arteriovenous malformations
High output cardiac failure
84
Name two disease that can exhibit kasabach-merritt phenomenon (thrombocytopenia and consumptive coagulopathy)
Tufted angiomas or kaposiform hemangioendotheliomas
85
What is obstructed in Miliaria crystallina
superficial obstruction of eccrine sweat duct at the level of the stratum corneum
86
What is obstructed in Miliaria rubra
eccrine sweat glans at the level of the Malpighian layer of the epidermis (basal and spinous layer)
87
Name the nevus: rare disorder of keratinization involving the intraepidermal eccrine duct and is characterized by multiple unilateral linear punctate pits with comedo-like plugs most commonly on the palms, soles, distal extremities that are present at birth, or early childhood
Porokeratotic eccrine ostial and dermal duct nevus
88
3 cm circinate plaque with keratotic border on extremities in infancy and childhood (type of porokeratosis)
porokeratosis of mibelli
89
PWS on the superior face (large and bilateral V1) + neurologic and ocular anomalies
Sturge Weber Syndrome
90
T/F: PHACE syndrome is associated with segmental facial hemangiomas
True
91
T/F: Port Wine Stain is associated with cardiac defects
False
92
What should you be aware of in a patient with an epidermal nevus of the epidermolytic hyperkeratosis type?
Their child could inherit generalized epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma in offspring)
93
Mutation and inheritance of epidermolytic icthyosis (bullous CIE)
KRT1, KRT10 AD
94
What are the stages of Schobinger classification of AVMs
1. Quiescent
2. Growing-may be pulsatile and have a thrill
3. Pain, bleeding, ulceration, lytic bone lesions (Destruction)
4. Decompensating cardiac failure
95
Name the syndrome: dermal melanocytosis + lysosomal storage ds + gargoyle appearance
Hurler Syndrome--classic presentation with extensive blue pigmentation of both dorsal and ventral surfaces
96
Nearly all CHILD patients are male or female
Female (congenital hemidysplasia, icthyosiform erythroderma, and limb defect)
97
Hyperpigmentation and ambiguous genatalia
Congenital adrenal hyperplasia
98
True or False: The number of skin manifestations of proteus correlates with the number of extracutaneous manifestations
True
99
Most common tissues affected in proteus syndrome
Skin and Bones
100
Name the ds: cerebriform connective tissue nevi of the palms and soles, epidermal nevi, macrodactyly, macrocephaly, lipomas, fatty hyperplasia, vascular malformations, bilateral ovarian cystadenomas, parotid adenomas
Proteus syndrome
101
Name the ds: AKT1 kinase (oncogene that encodes the serine threonine protein kinase AKT)
Proteus syndrome: AKT in cell proliferation and apoptosis through the mammalian target of rapamycin (mTOR) signalling
-can detect in skin bx; unlikely to detect in peripheral blood
102
What does CLOVES stand for and what type of vascular lesion is a feature
Congenital
Lipomatous
Overgrowth
Vascular malformations (high flow paraspinal vascular lesions consistent with AVM)
Epidermal nevi
Scoliosis/skeletal and spinal abnormalities
103
Hairs showing a waxy, irregular outline and flattened shaft along with fractures with alternating light and dark bands
Trichothiodystrophy--AR disorder characterized by sulfur-deficient hair; due to several related genetic defects involving TFIIH/XPD-XPB complex
104
Syndromes associated with Pili Torti
1. Menkes syndrome
2. Crandell syndrome
3. Bjornstad syndrome
4. Urea cycle (citrullinemia, argininosuccinic aciduria)
5. Netherton's
105
Classic netherton's hair finding
trichorrhexis nodosa and trichorrhexis invaginata
106
Name the ds: nevus sebaceous, central nervous system, ocular abnormalities, hypophosphatemic vit D resistant rickets (possible mosaicism of the bone for HRAS defects)
Schimmelpenning syndrome
107
Name 2 ds with stippled epiiphyses and ipsilateral hypoplasia
1. Conradi-Hunermann syndrome
2. CHILD syndrome
108
What ds is associated with polyostotic fibrous dysplasia?
McCune Albright Syndrome
109
What bone anomaly is associated with Goltz syndrome (aka focal dermal hypoplasia)
Vertical striations in the metaphyses of long bones aka osteopathia striata
110
Asymptomatic round to oval opacities consistent with osteopoikilosis is a feature of \_\_\_\_
Buschke Ollendorff Syndrome
111
What does PELVIS stand for?
Perineal hemangioma
External genital malformations
Lipomyelomeningocele
Vesicoreal abnormalities
Imperforate anus
Skin tag
112
Best imaging in PELVIS
MRI
113
Name the KRT: Epidermolysis bullosa simiplex-dowling meara subtype
KRT 5 and 14
114
Name the mutation: acral peeling skin syndrome
Transglutaminase 5
115
Name the mutation: Epidermolytic icthyosis (formerly epidermolytic hyperkeratosis and bullous congential icthyosiform erythroderma)
KRT 1 and 10
116
Name the mutation: Junctional Epidermolysis Bullosa (herlitz)
Laminin 5 (aka Laminin 332)
117
Name the mutation: Vorner PPK (epidermolytic PPK of Vorner)
K9
118
Name the mutation: Dowling Degos
Keratin 5
119
Name the mutation: Naegli-Franceschetti-Jadassohn Syndrome
Keratin 14
120
What 2 diseases are caused by mutations in PTEN tumor suppressor genes?
Bannayan Riley Ruvalcaba (pigmented macules on glans penis, lipomas, macrocephaly and mental retardation)
Cowden
121
What is caused by a mutation in RASA1--a tumor suppressor gene?
Parkes Weber Syndrome and Capillary malformation-AV malformations
122
Ankyloblepharon-ectodermal dysplasia-clefting syndrome is also known as what
Hay-wells syndrome: wiry sparse hair or alopecia, cleft palate, absent or dystrophic nails, partial anhidrosis, PPK
123
True or False: Patients with severe psoriasis have a greater risk for obesity than patients with mild psoriasis
True
124
What is the most common comorbidity of pediatric psoriasis
Obesity
125
True or False: in patients with darker skin types, transient almost black hyperpigmentation can be a normal finding on the genitalia as well as the pinnae, areolae, axillae, and base of the nail beds
True (can also include the linea nigra)
126
Where is pigmentation more pronounced in adrenal insufficiency?
palmar creases, flexural areas, orogenital mucosal surfaces
127
Hypohidrosis, hypotrichosis, hypodontia, recurrent fevers, peeling skin, periorbital wrinkling and hyperpigmentation, arched eyebrows, broad nasal root, thick everted lips is called what and due to what gene?
x-linked hypohidrotic ectodermal dysplasia (XLHED) dt mutation in EDA gene (ectodysplasin)
128
Common ocular complication in hypohidrotic ectodermal dysplasia
Keratoconjunctivitis sicca--due to meibomian gland dysfunction leading to decreased lubrication of the eye
129
Name the syndrome: females with missing or conical teeth, sparse hair, segments of hypohidrosis due to random x inactivation, impaired breast development
hypohidrotic ectodermal dysplasia
130
Dx: microcystic lymphatic malformation, large in the axilla
Next step?
MRI
131
If symptomatic or bothersome, what is tx of neonatal cephalic pustulosis
ketoconazole (tx of the malazzesia)
132
What features of spinal dimples increase the risk of associated spinal dysraphism?
1. size \> 5mm
2. location \>2.5 cm from anus
3. dimple that appears with another skin lesion (ie adjacent hemangioma)
133
Ideal tx of median raphe cyst
excision
134
Mutation that causes Hutchinson Gilford Progeria
Lamin A (LMNA)
135
Name the ds and mutation: 30s-40s with sclerodermoid changes, facial atrophy, telangiectasias, mottled pigmentation and older than stated age with hair loss, subq fat loss, muscle wasting, spindly extremities; short with high pitched voice
-early atherosclerosis, MI, DM, hypogonadism, cataracts, osteoporosis, skin and organ cancers
Werner Syndrome (RecQL2) gene
136
Name the ds: congenital blistering disorder with photosensitivity and poikiloderma
Kindler Syndrome (KIND1 mutation)
137
Name the ds: poikiloderma of the face, buttocks, extensor extremities and hypoplastic or absent thumbs
Rothmund-Thomson (RecQL4 mutation)
138
Name the ds: Photosensitivity, poikiloderma, neurologic degeneration
Cockayne syndrome (ERCC6 and ERCC8)
139
Symptoms of generalized morphea
Arthralgias
140
141
Tx for infant with miliaria rubra
Avoidance of heat
142
What port wine stain has the highse risk? Second highest risk?
V1 and V2 followed by V1
143
What further evalation is needed in a port wine stain with V1 and V2 distribution?
Ophthalmologic examination and MRI
144
Encephalotrigeminal angiomatosis
Sturge Weber Syndrome
145
True/False: Imaging is recommended in port wine stain of V2/V3
False: low risk for sturge weber (encephalotrigeminal angiomatosis)
146
CLOVES syndrome
Congenital
Lipomatous
Overgrowth
Vascular malformations (lymphatic/capillary/venous)
Epidermal Nevi
Skeletal abnormalities/Scoliosis
147
Name the PIK3CA overgrowth syndromes (4) aka PROS (PIK3CA related overgrowth syndromes)
CLOVES syndrome
Klippel Trenaunay syndrome
Megalencephaly (Macrocephaly)-capillary malformation syndrome (MCAP)
Fibro-adipsose vascular anomaly (FAVA)
148
Name the gene: Maffucci
IDH1
149
Name the gene: Parkes-Weber
RASA1
150
Name the gene: Proteus
AKT1
151
Name the gene: Sturge Weber
GNAQ
152
Name the ds: Triad of diffuse palmoplantar keratoderma, nail dystrophy and hyptrichosis
hidrotic ectodermal dysplasia (aka Clouston's)
153
Mutation in Clouston's
GJB6 gene which encodes gap junction protein connexin 30
154
Name the ds: mutation in KRT6A, KRT6B, KRT6C, KRT16, and KRT17
Pachyonychia congenita (wedged shaped hyperkeratosis of the nails)
155
Hidrotic ectodermal dysplasia vs pachyonychia congenita
1. genetics
2. alopecia in HED, not PC
3. PPK in PC is focal, plantar, painful, blistering with hyperhidrosis vs in HED it is diffuse, less symptomatic
4. PC: natal teeth, oral leukoplakia, steatocystomas, follicular hyperkeratosis
156
What is the role of connexin 30
forming gap junctions to facilitate cell-to-cell cytoplasmic connection
157
Name 3 ds caused by mutations in keratins (intermediate filaments that form the cytoskeleton of keratinocytes)
pachyonychia congenita, Vorner (KRT9), Unna Thost (KRT1)
158
True or False: The alopecia, nail changes and keratoderma in hidrotic ectodermal dysplasia are progressive
True: the nails are often milky white in infancy and thicken over time, hair is brittle early in life and then to patchy alopecia in adolescence
159
Why are connexin mutations dominant?
Connexin mutations are dominant because the abnormal protein complexes with normal protein, impairing the function of the normal protein; variable expressivity
160
Name the ds: vesicopustules of different sizes that rupture within two to three days leaving hyperpigmented macules and scaly collarettes that usually fade within weeks; self limited
Transient neonatal pustular melanosis (neutrophils)
161
Most brachial anomalies are the result of failure of obliteration of the ????
second cleft or pouch
162
What can be inciting factors of brachial anomalies during weeks 4-8 in utero
toxic, mechanical, vascular
163
Allergic contact dermatitis to diaper rubber components--name the chemical
Mercaptobenzothiazole (holster sign)
164
What ethnicity is most likely to have transient neonatal pustular melanosis?
African American newborns (forehead, posterior ears, chin, neck, upper chest, back, buttocks, abdomen, thighs, palms, soles)
-fades in weeks to months
165
What is the follow up for pediatric lichen sclerosus?
Lifelong condition
166
What color in the hallmark feature of vulvar lichen sclerosus (in addition to classic figure 8 pattern, pain, pruritus, burning sensation)
Purpura
167
Sequelae of lichen sclerosus
dysuria, local spotty bleeding dt skin fissuring, constipation
168
Autoimmune ds associated with lichen slcerosus
celiac ds, alopecia areata, vitiligo
169
PHACE syndrome
Posterior fossa malformation
Hemangioma
Arterial anomalies
Cardiac anomalies/aortic coarctation
Eye abnormalities
Sternal clefting
Supraumbilical abdominal raphe
170
How to avoid hypoglycemia with propranolol
Give the medication with feeds (not dose dependent, not based on frequency)
171
Tx of fetal scalp abscess (scalp lesion with associated erythema, warmth, hx of fetal scalp electrode)
incision and drainage with abx (untx can lead to osteomyelitis and sepsis)
172
Name the process: supraperiosteal collection of serosanguineous fluid that is thought to be due to pressure applied to the infant's head during childbirth; crosses cranial sutures and noticeable immediately following delivery
Caput succedaneum
173
Name the process: associated with birth trauma, subperiosteal, does not cross cranial sutures; can lead to anemia, hyperbilirubinemia, present within hours of delivery
Cephalohematomas
174
Name the syndrome and gene: cleft palate, lacrimal duct atresia, aplasia of the meibomian glands, conductive hearing loss, GU anomalies, ocular (epiphoria-watering eye, recurrent infx and keratoconjunctivitis, corneal scarring, blindness), ectrodactyly (hand/foot malformations to absent middle digits)
Ectrodactyly ectodermal dysplasia and cleft palate syndrome (EEC) a/w p63
175
refers to short digits
brachydactyly
176
Name 2 p63 associated ectodermal dysplasias
1. ectrodactyly, ectodermal dysplasia, and cleft palate (EEC)
2. ankyloblepharon‐ectodermal dysplasia‐clefting (AEC) syndrome
177
Term: digits that are bent laterally or medially
clinodactyly
178
Somatic mutations in what ??? have been associated with nevous sebaceous
HRAS, KRAS
179
What mutation is a/w pilomatricomas
B-catenin
180
What mutation is a/w mastocytomas
c-KIT
181
What is the mutation in Brooke Spiegler? What does this result in?
CYLD-cylindromas, spiradenoma, trichoepitheliomas
182
What mutation results in multiple cutaneous and uterine leiomyomatosis
fumarate hydratase
183
Name the ds: venous malformations (cutaneous and extracutaneous), endochondromas dt dyschondroplasia that can become malignant chondrosarcomas
Maffucci syndrome
184
What is the mutation found in CM-AVM? What modality to further evaluate CM-AVM?
RASA1 mutation; MRI/MRA of brain and spinal cord
185
What does hair color sign increase risk for in patient with aplasia cutis?
underlying cranial dysraphism (meningocele, encephalocele, heterotopic brain tissue)
MRI of the brain
186
What stain is used in erythema toxicum neonatorum?
Wright stain--eosinophils (contrast with wright stain of HSV showing multinucleated giant cells)
187
Name (3) syndromes associated with bilateral acromial dimples?
18q deletion syndrome, Say syndrome, Apert syndrome
188
Name the deletion: growth/developmental delays, mental retardation, hypotonia, midface hypoplasia, microcephaly, strabismus, cleft lip and palate
18q deletion
189
Cone shaped epiphyses of the phalanges (on imaging), large joint arthritis by adulthood, pear shaped nose, sparse hair--name the syndrome and the mutation
Trichorhinophalangeal syndrome type 1, TRPS1
190
PORCN mutation (regulator of wnt signaling pathway)
Focal dermal hypoplasia (goltz syndrome)
191
Name the syndrome: FOCAL
Female, XLD (lethal in males)
Osteopathia striata
Colobomas
Aplasia ectoderm elements
Lobster claw deformity
Focal dermal hypoplasia (Goltz syndrome or Gorlin-Goltz syndrome)
--also have verrucous papillomas (oral, genital, rectal)
192
Name 2 syndromes a/w cleft palate
ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
193
Name the allergen: pigments and dyes, green felt fabric, cosmetics, radiator coolants, and leather
Potassium dichromate
194
Formaldehyde resin found in various clothing accessories (shin guards, wet suits, push-up bras)
P-tert-butylphenol
195
Name the syndrome: 30s-40s with slcerodermoid changes, facial atrophy, telangiectasias, mottled pigmentation, premature hair loss, subq fat loss, muscle wasting, spindly extremities, short statures, high pitched voice
Early atherosclerosis, MI, DM, hypogonadism, cataracts, osteoporosis, cutaneous and visceral malignancy
Werner syndrome
196
What is the mutation in Werner syndrome
RecQL2
197
Name the syndrome: dry skin, large cranium with frontal bossing, beak like nose, prominent scalp veins, slcerodermoid skin changes. Death from early atherosclerosis (age 13)
Progeria
198
anti-toposisomerase antibody (SCL-70)
Cutaneous systemic sclerosis--higher risk of interstitial lung disease
199
Anticentromere antibody
Limited cutaneous systemic slcerosis
200
What is mutation in Kindler syndrome
KIND1 (FERMT1) loss of function mutation
201
Name the ds: congenital trauma-induced blistering that favors acral sites, typically improves during childhood
Photosensitivity improves with age
Progressive poikiloderma and skin atrophy of the photoexposed followed by the photoprotected areas, beginning in childhood; webbing of the fingers and toes
Complications: gingivitis, poor dentition, esophageal strictures, colitis, steosis of urethral meatus/anus/vagina/esophagus
Kindler Syndrome
202
What ds is mottled pigmentation due to KRT5 mutation
Epidermolysis bullosa simplex
203
Name syndromes with poikiloderma (3)
Bloom syndrome (hypogammaglobulinemia, infections)
Cockayne syndrome (photosensitivity, neurodegeneration ERCC6 or 8 mutation)
Rothmund-Thomson (hypoplastic thumbs RecQL4)
204
Homozygous mutation in ITGA6 or ITGA4 encoding integrin alpha6 or beta4
Junctional epidermolysis bullosa with pyloric atresia, malformed small ears, GU abnormalities
205
KRT1 or KRT10 mutation: thick hyperkeratotic plaques and palmoplantar keratoderma
KRT1
206
Name the syndrome: extensive aplasia cutis congenita over the scalp in association with transverse limb defects, cardiac, CNS anomalies
Adams-Oliver syndrome (AR or AD inheritance)
207
Name the syndrome: rare disorder of the bone characterized by progressive massive osteolysis and accompanying uncontrolled growth of vascular and lymphatic tissue that is non-malignant
Gorham's ds or Gorham-Stout Ds
208
Name the antiseptic: not inactivated by blood, lasting antiseptic properties
Chlorhexidine--binds to the stratum corneum to give lasting antiseptic effects
209
Oral counterpart to milia
Bohn's nodules (gums)
Epstein's pearls (roof of mouth and lateral palate)
210
LUMBAR-what does it stand for
Lower body hemangioma
Urogenital anomalies
Ulceration
Myelopathy
Bony deformities (foot deformity, leg length descrepancy, hip dysplasia, sacrum abnormality, scoliosis)
Anorectal malformations
Arterial anomalies
Renal anomalies
211
Hereditary hemorrhagic telangiectasia AKA
Osler-Weber-Rendu Syndrome
212
Mucocutnaeous telangiectasia and visceral AV malformations; presenting sign is often epistaxis
Hereditary hemorrhagic telangiectasia
213
Name the syndrome: AD mutation in endoglin, activin receptor-like kinase 1
Hereditary hemorrhagic telangcietasia (HHT1=endoglin and activin receptor like kinase 1=ALK1=HHT2)
214
Name the ds: present with epistaxis and anemia from GI bleeding
Type 1: pulmonary AVMS
Type 2: cerebral, hepatic AVMS
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)
215
Name the ds: AR mutation in gene that regulates cell cycle ctonrol and ceullar damage response to double strand DNA breaks and confers radiosensitivity and chromosomal instability; increase chromosomal breakage in vitro with ionizing radiation
Ataxia telangiectasia (Louis Bar syndrome)
\*female carriers of the ATM gene have high risk of breast cancer
216
Name the ds: oculocutaneous telangiectasias appear around 3-5 years of age, ocular lesions often striking with subtin pinpoint skin lesions
Ataxia telangiectasia
217
Name the ds: truncal ataxia, noninfectious granulomas, immunodeficiency (low IgA, low IgG, low IgE and **high IgM**), bronchiectasis and resp failur, high risk of leukemia, lymphoma and breast cancer
Ataxia telangiectasia
218
Name the ds: cutaneous intraspinal and intravertebral arterovenous malformations affecting the same mesodermal derived somite; dx often after incidental spinal imaging or spinal cord compression symptoms
Cobb syndrome (cutaneomeningospinal angiomatosis)
219
Name the ds: vascular overgrowth, limb capillary-venous malfromation or capillary-lymphatic-venous malformation with progressive overgrowth of the affected extremity
Klippel-Trenaunay syndrome
220
Name the ds: limb overgrowth secondary to a fast flow arteriovenous fistula
Parkes-Weber Syndrome
221
PHACES syndrome--define
Posterior fossa malformation
Hemangioma-large facial hemangioma
Arterial anomalies
Coarctation of the aorta, cardiac abnormalities
Eye abnormalities
Sternal clefting and/or Supraumbilical raphe
222
Name the syndrome: facial capillary malformation a/w ipsilateral ocular and leptomeningeal/brain anomalies
Sturge-Weber Syndrome
223
Name the 4 stages of incontinentia pigmenti
Bullous
Verrucous
Hyperpigmented
Hypopigmented
224
What is the next step if concerned about airway hemangiomatosis?
ENT evaluation in hemangiomas of mandibular segment (preauricular skin, mandible, chin, lower cutaneous lip --beard lesions) for airway obstruction and conductive hearing loss
Tx: propranolol (becaplermin is a human plt derived growth factor that is helpful for ulcerations)
225
What keratin of epidermolytic icthyosis is a/w severe palm and sole involvement
Epidermolytic itcthyosis keratin1 (not keratin 10)
226
Mutation in icthyosis vulgaris
filaggrin
227
Mutation in x-linked icthyosis
steroid sulfatase
228
Connexin 26 mutation
keratitis-icthyosis-deafness syndrome
229
True/False: peripheral blood sample in erythema toxicum neonatorum canc show eosinophils
True (7-15%)
Writght stain shows predominantly eosinophils
230
Cause of transient neonatal cyanosis (blue baby)
fetal G y-globin gene (HBG2) mutations; decreased oxysaturation that may require O2 supplementation or transfusion and resolves by 6 months
or acrocyanosis (transient)
231
Bronze baby--cause
hyperbilirubinemia (bilirubin photoisomers or photo-oxidation of copper bound porphyrins)
232
Rare, linear, psoriasiform plaque that presents during childhood (\<5 yrs old) and many spontaenously resolve
-very pruritic, tx is difficult
ILVEN (inflammatory linear verrucous epidermal nevus)
233
also known as disappearing bone disease and implicated in the PIK3CA pathway
- osteolysis, destruction due to lymphatic malformations that initiate osteoclastic activity
- pleural and pericardial lymphatic effusions
Gorham Stout Disease
234
What is the treat of gorham stout ds
Sirolimus (same tx as in other PIK3Ca)
235
What medication is used for vesciles and bullae in epidermoylsis bullosa by promoting collagen production
gentamycin
236
What 2 medicines are effective sclerosants for macro and micro cystic lymphatic malfromations (NOT for intra-articular malformations)
Doxycycline and bleomycin
237
Name the ds: p63 related ectodermal dysplasia a/w recurrent, midface erosive **scalp dermatitis/erosions** at birth, midface hypoplasia, ankyloblepharon
Ankyloblepharon-ectodermal-clefting (AEC)
\*often misdiagnosed as EB
238
What complication is a/w ankyloblepharon-ectodermal dysplasia-clefting (AEC)
scarring alopecia and **recurrent staphyloccal infections (sepsis)**
239
Transcription factor critical for the development of the epidermis, midface, limbs, leading to anomalies in ectodermal dysplasias
p63
240
Complication a/w \*\*\*: tracheolaryngeal blistering, softe tissue swelling, airwary obstruction
Junctional epidermolysis bullosa-herlitz type
241
Name the EB simplex: primarily on hands/feet, normal lifespan
EBS-localized (weber-cockayne)
KRT5 and KRT14
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Name the EBS: any site of friction, normal lifespan, bullae worse in heat
EBS generaliezed intermediate (koebner)
243
Name the EBS: generaliezed blisters, clustered herpteiformis appearance, nail dystrophy, palmoplantar hyperkeratosis, clumped tonofilaments on electron microscopy
Most severe, usually normal lifespan; rare a/w sepesis, anemai FTT
EBS generalized severe--Dowling Meara or EBS herpetiformis
244
Name the EBS: acral blisters, mottle hyperpigmentation on the trunk and limbs
EBS-mottled pigmentation (very rare subtype, normal lifespan)
245
Name the EBS: bulla at birth with delayed muscle weakness
EBS-muscular dystrophy
- AR
- Plectin
246
Where is the level of the split in intraepidermal EBS
intraepidermal
247
Where is the level of the split for junctional EB
lamina lucida of BMZ
248
Name the JEB (junctional epidermolysis bullosa): AR, laminin 332
## Footnote
-without scarring, **buttocks, perioral**, **hoarse cry dt laryngeal invovlement**, perioral granulation, death in first few years of life dt respiratory failure and septicemia (90% by 1 year old), FTT, anemia
JEB-generalized severe (previously JEB herlitz or EB lethalis)
249
Name the JEB: Laminin 332, Collagen XVII, AR
## Footnote
-generalized blisters, oral, heals with **atrophic scars, scarring alopeci**, nail dystrophy, dental enamel hypoplasia, corneal erosions, survive to adulthood
JEG-generalized intermediate (non-herlitz generalized atrophic benign EB)
250
Name the JEB: AR, a6b4 integrin
## Footnote
- generalized blisters with large congenital absence of skin, **pyloric atresia, ureteral stenosis,** hydronephrosis, rudimentary malformed ears
- poor prognosis with mortality in infancy
JEB-pyloric atresia
251
What is the level of the split in dystrophic EB
below the lamina densa of the BMZ
252
Name the EB: AD, COL7A1, collagen VII, birth
## Footnote
-generalized bullae, most prominent overlyng extensor joints; tends to improve over time; heals with **atrophic scarring and milia, nail dystrophy**
DDEB (dominant dystrophy EB)
Cockayne-Touraine Type
253
Name the EB: AD, COL7A1, collagen VII, birth
- generalized bullae, most prominent overlyng extensor joints; tends to improve over time; heals with **atrophic scarring and milia**, nail dystrophy
- **+ albopapuloid papules** that favor trunk and arise spontaneously (without preceding blisters)
DDEB (dominant dystrophic EB) Pasini type
254
Name the EB: AR, COL7A1 (lack of anchoring fibrils), collagen VII
## Footnote
-generalized mucocutaneous blisters, **heals with atrophic scarring and milia**
**-pseudosyndactyly (mitten deformities), contractures of digits,** scarring alopecia, corneal erosions, oral blisters, mircostomia, dental caries, esophageal strictures, osteopenia, growth failure, anemia, dilated cardiomyopathy, **renal failure, aggressive SCC**
**-50% SCC by 35 yo to death**
-renal failure 12% mortality
Recessive dystrophic EB; generalized severe (previously known as Hallpeau siemens)
255
Name the EB: AR, COL7A1, collagen VII, birth
## Footnote
-generalized blisters, heals with atrophic scars, milia, may be difficult to distinguish from DDEB clinically
RDEB generalized intermediate (previously known as non-hallpeau siemens type)
256
Rare disorder characterized by skin fragility, photosensitivity, poikiloderma
- mixed blister cleavage plane
- reduced or absent staining of fermitin family homolog 1 (FERMT1 gene) involved in keratinocyte adhesion and migration
- electron microscopy with **duplication of lamina densa**
**-**histo: absence/fragmentation of elastic fibers
Kindler syndrome (Acrokeratotic poikiloderma)
257
Name the EB: AR, FERMT1, **poikiloderma, acral blisters, photosensitivity,** , palmoplantar hyperkeratosis, nail dystrophy, SCC of the lilp and hard palate, skin fragility
-photosensitivity improves over time
Kindler syndrome
258
Most common complication of blue rubber bleb nevus syndrome?
Rare complications of blue rubber bleb nevus syndrome?
GI bleed to chronic anemia
Rare: orthopedica and CNS
259
Widespread erythema and superficial blistering at birth, subtle skin thickening over the palms/soles, elbows and knees that progresses to a verriciform, ridged scale, accentuated in areas of friction (palms/soles/flexural and intertriginous areas)
Epidermolytic icthyosis (previously bullous congenital ichthyosis erythroderma)
KRT1 and KRT10
AD
260
What are the diagnositic criteria for proteus syndrome:
Single criteria from A (cerebriform connective tissue nevus)
or two from B (epidermal nevus, overgrowths/tumors (bilateral ovarian cystadenomas, parotid monomorphic adenomas)
or all three from C (dysregulated adipose tissue-lipomas, dermal hypoplasia) vascular malformations, facial phenotype (long face, minor downward slanting palpebral fissures, low nasal bridge, wide nares, open mouth)
261
What to avoid in neonatal acne?
Topical steroids (baby oils, creams, ointments, lotions)
262
Best next step of a brachial cleft cyst
Discuss with patient it is a benign brachial cleft cyst, order and MRI and refer to ENT for removal
263
What is the cause and tx of miliaria rubra
Occluded eccrine ducts in the lower intraepidermis with dermal inflammation in the neck fold and chin
Tx: correct overheating
264
Numerous milia, absent dermatoglyphs in neonates, frequent erosions of the skin on the hands and feet
Basan syndrome (AD mutation in SMARCAD1)
265
adermatoglyphia, generalized irregularly shaped hypo and hyperpigmented macules
Dyschromatosis universalis hereditaria
266
AD ectodermal dysplasia, due to mutation in KRT14, lack of dermatoglyphs, reticulate hyperpigmentation
Naegeli-Franceschetti
267
Milia in childhood (not birth), follicular atrophoderma, increased risk of BCC
Basex-Dupre-Christol
268
Ophthalmological abnormalities in port-wine stain
glaucoma
269
Brain abnormalities with V1 port wine stain
abnormal venous drainage, pial angiomas, seizures
-obtain MRI if neurologic issues (seizures, etc)
270
What is the cause of harlequin color change
immaturity of the hypothalamic centers that control the tone of peripheral blood vessels
271
XLD, inactivating mutations in NSDHL
CHILD
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
272
True/False: Lip pits can occasionally extend into the orbicularis oris muscle and communicate with salivary glands via a blind sinus tract
True
273
What percent of hidrotic ectodermal dysplasia patients may have only onychodystrophy as the physical exam finding
30%
274
Nail dystrophy, blaschkoid patches of hypoplastic skin, fat herniation
focal dermal hypoplasia
275
What brachial pouch and cleft normally remain in opposition in adulthood
Firt
276
What brachial pouch gives rise to the eustachian tube, typanic cavity
first pouch
277
What cleft develops into th external auditory meatus
First cleft
278
What brachial pouch form the palantine tnosil
second pouch
279
280
What pouch forms the inferior parathyroid and thymus
third pouch
281
What pouch forms the superior parathyroid and ultimobrachial body
Fourth and sixth
282
Name the syndrome: capillary malformation with underlying soft tissue and bony hypertrophy that can lead to limb length discrepency (need for orthopedic intervention)
Klippel-Trenaunay syndrome
283
Name 5 syndromes a/w kyphoscoliosis
1. Ehler's danlos syndrome
2. Marfan syndrome
3. Proteus syndrome
4. Osteogenesis imperfecta
5. Cowden syndrome
284
Name the syndrome: short stature, scaling blaschkoid icthyosis that resolved into follicular atrophoderma, skeletal stippling, shortened long bones, alopecia, cataracts, sensorineural hearing loss
Conradi Hunerman Happle Syndrome (X-linked Dominant Chondrodysplasia)
285
What three things can desquamation at the time of birth be a sign of?
Abnormal: postmaturity, intrauterine anoxia, icthyosis
286
Name the syndrome: natural history of improvement of blisters with age with the development of thick scales in flexural areas; blisters heal without scarring
Epidermolytic hyperkeratosis; autosomal dominant
287
Name the syndrome: port-wine stain (PWS), dermal melanocytosis (mongolian spot) +/- nevus of ota or ito
-most common subtype
Phakomatosis pigmentovascularis
288
PWS + Epidermal Nevus
Phakomatosis pigmentovascularis type 1
289
Characterized by port wine stain and nevus spilus
Phakomatosis pigmentovascularis type III
290
Characterized by dermal melanocytosis (mongolian spot) and nevus spilus and port wine stain
Phakomatosis pigmentovascularis type IV
291
What additional feature can accompany phakomatosis pigmentovascularis types II-IV
nevus anemicus
292
Generalized scaling, erythroderma, hypernatremic dehydration
## Footnote
- secondary skin infections with Staph aureus, extensive papillomavirus infx, classic hair shaft anomaly is trichorrhexis invaginata
- no evidence of colloidion baby phenotype, blisters, mucosal erosions or family hx of skin ds
Nethertons
293
What does SPINK5 encode
Serine protease inhibitor LEKTI
294
What is the cause of trichorrhexis invaginata ('bamboo hairs')
defect in keratinization of the inner root sheath
-defect appears in Netherton's after 1 year of age
295
Systemic manifestations of Netherton's
1. intestinal villous atrophy
2. diarrhea
3. FTT
4. Food allergies, asthma, urticaria, anaphylaxis
5. Atopic dermatitis with infx (Staph aureus, papillomavirus--\> SCC)
296
AD with high penetrance, variable expression--clefting with lip pits due to mutation in the interferon regulatory factor 6 gene
Van der Woude Syndrome
297
Multiple cystic structures along the lingual and vestibular alveolar ridges
Bohn's nodules
298
What is the most common form of xeroderma pigmentosum in the US?
XP-C (no neurologic effects)
299
What is the most common form of xeroderma pigmentosum in Japan
XP-A and has mild to severe neurologic manifestations--progressive degeneration with mental retardation, sensorineural deafness, microcephaly, hyporeflexia, spasticity, ataxia (neuro effects in A, B, D, E)
300
RecQL4 helicase gene mutation
Rothmund Thomson
301
Poikilodermatous patches of the face, buttocks, extensor extremities seen by age three to six months; hypoplastic or aplastic thumbs, acral verrucous keratoses, juvenille cataracts (RARE-osteosarcoma, fibrosarcoma, SCC)
Rothmund Thomson
302
