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Peds Core Exam > Peds AAD Questions > Flashcards

Peds AAD Questions Flashcards

1
Q

Gene in CHILD syndrome

A

NSDHL

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2
Q

What does the gene in CHILD syndrome (NSDHL) encode?

A

3B-hydroxysteroid dehydrogenase (cholesterol biosynthesis pathway)

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3
Q

Gene in Sjogren-Larsson Syndrome

A

FALDH

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4
Q

What is the FALDH responsible for in Sjogren-Larsson syndrome

A

enzymatic conversion of fatty alcohol to fatty acid

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5
Q

Mutation in Darier Ds

A

ATP2A2

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6
Q

What does the ATP2A2 gene refer to in Darier Ds

A

sarcoplasmic/endoplasmic reticulum calcium ATPase type A

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7
Q

What is the gene mutation in Hailey Hailey

A

ATP2C1

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8
Q

What does the ATP2C1 in Hailey Hailey encode?

A

secretory ATPase pump of the golgi apparatus

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9
Q

What is the mutation in x-linked icthyosis

A

ARSC1

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10
Q

What does the ARSC1 gene encode

A

steroid sulfatase

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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

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12
Q

What is associated with 25% of Riga-Fede cases

A

anomaly or underlying neurologic disorder

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13
Q

What is the most common extracutaneous site of juvenile xanthogranuloma; second most common?

A
  1. Eye (usually unilateral)
  2. Lungs
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14
Q

3 tumors of Brooke Spiegler

A
  1. Trichoepitheliomas
  2. Cylindromas
  3. Spiradenomas
    (rare parotid or salivary tumors)
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15
Q

What is the mutation in Brooke-Spigler

A

CYLD

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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

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17
Q

Defect in Rapp Hodgkin

A

p63

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18
Q

Rare ectodermal dysplasi with characteristic cutaneous features (unclear if distinct from ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome)

A

Rapp-Hodgkin

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19
Q

Name the activating mutations in keratinocytic epidermal nevi

A
  1. HRAS
  2. FGFR3-fibroblast growth receptor 3
  3. PIK3CA-p110 a-subunit of PIK
  4. KRAS
  5. NRAS
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20
Q

What syndrome is caused by mutation in FGFR2

A

Apert

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21
Q

Name 4 features assocaited with spinal dysraphism

A
  1. Gluteal cleft asymmetry
  2. Lumbosacral infantile hemangioma
  3. Lumbosacral skin tag
  4. Midline back lipoma

(NOT a DIMPLE <5mm)

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22
Q

What brachial cleft and pouch form the auditory canal, eustachian tube, middle ear, mastoid air cells

A

first brachial cleft

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23
Q

What brachial clef cysts may communicate with the pharynx

A

Second, third, fourth brachial cleft cysts

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24
Q

Where do accessory tragi form

A

along fusion line of the first brachial arch

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25
Q

Name the syndrome: AD genetic condition with brachial arch abnormalities, hearling loss, ear anomalies, renal anomalies?

A

Brachio-oto-renal syndrome

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26
Q

Name the syndrome: seizures, long face, limb asymmetries, palmar connective tissue nevi (cerebriform) pulmonary embolisms, cord compression?

A

Proteus Syndrome

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27
Q

Name a ds that has increased risk of high output cardiac failure

A

Parkes Weber

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28
Q

Name a ds with increased risk of spontaneous pneumothorax

A

Birt-Hogg-Dube

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29
Q

Name the ds: overgrowth of skin, bones, asymmetrical limbs, abnormally long face, low nasal bridge, cerebriform connective tissue nevi on palms/soles

A

Proteus syndrome

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30
Q

Associated with smooth muscle bundles and central mammary duct

A

supernumerary nipples

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31
Q

Where is the ‘milk line’?

A

axilla through a traverse curvilinear fashion to anatomic nipple to the groin

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32
Q

Most common location for a supernumerary nipple

A

below the typical anataomic nipple on the lower chest/upper abdomen

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33
Q

Name the icthyosis: ABCA12

A

Harlequin Icthyosis

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34
Q

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)

A

Chanarin-Dorfmin

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35
Q

Tx of midline cervical cleft

A

Surgical-this is a fusion abnormality of 1st and 2nd brachial arches; surgery prevents cervical contracture

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36
Q

Name 3 syndromes associated with congenital lower lip pits

A

Kabuki syndrome, popliteal pterygium syndrome, Van der Woude syndrome

(all three also a/w cleft palate)

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37
Q

Name 4 syndromes associated with sacral dimples

A
  1. Bloom syndrome
  2. Carpenter syndrome
  3. Robinow syndrome
  4. Smith-lemil-Optiz syndrome
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38
Q

Name a syndrome a/w micrognathia and dermatomyositis

A

Velo-cardio-facial syndrome

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39
Q

Name the syndrome chondrodysplasia punctata icthyosis, alopecial, nail changes, cataracts

A

Conradi-Hunermann-Happle

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40
Q

Name the defective protein in Conradi-Hunermann-Happle

A

Emopamil-binding protein

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41
Q

What enzyme is defective in Sjogren-Larsson syndrome (pruritic icthyosis, neurologic ds/spasticity with normal hair/nails)

A

Microsomal fatty aldehyde dehydrogenase enzyme

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42
Q

What enzyme is defective in Refsum ds (progressive neurologic changes and icthyosis)?

A

Phytanoyl-CoA hydroxylase

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43
Q

What is the mutation in incontinentia pigmenti (current and formerly known as)?

A

IKBKG (formerly known as NEMO)–impaired activation in the nuclear factor K-B pathway

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44
Q

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

A

Beckwith-Wiedemann Syndrome

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45
Q

Most common tumor in Beckwith-Widedemann Syndrome? Second most common?

A
  1. Wilm’s tumor
  2. Hepatoblastoma
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46
Q

Eczema, alopecia, delayed tooth eruption, inability to sweat (irritability and hyperthermia), periorbital hyperpigmentation

A

hypohidrotic ectodermal dysplasia

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47
Q

Genes associated with hypohidrotic ectodermal dysplasia

A

EDAR, EDARADD, WNT10A

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48
Q

Connexin 30 or GJB6 mutation

A

hidrotic ectodermal dysplasia (nail dystrophy and normal sweating)

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49
Q

Gene mutation a/w facial clefting and ectrodactyly

A

P63

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50
Q

Griscelli syndrome mutations

A

MYO5A and RAB27A

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51
Q

Triagnular lunulae

A

nail patella syndrome

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52
Q

Ankyloblepharon

A

skin attachment between the eyelids

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53
Q

AEC

A

ankyloblepharon-ectodermal defects-cleft lip/palate

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54
Q

EEC

A

Ectrodactyly-ectodermal dysplasia-clefting syndrome (syndactyly seen in this syndrome)

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55
Q

Pebbly skin tonded papules symmetrically on the scapular area of the back

A

Hunter syndrome (mucopolysaccharidosis type II)

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56
Q

Name 2 glycogen storage ds with extensive dermal melanocytosis

A

Hunter syndrome (mucopolysaccharidosis type II) and GM1 Type 1 gangliosidosis

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57
Q

Mutation in focal dermal hypoplasia (aka Goltz syndrome)

A

PORCN

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58
Q

Name the mutation in trichorhinophalangeal syndrome 1

A

TRPS1

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59
Q

Postnatal segmental overgrowth of multiple tissue (palmar connective tissue nevi, prominent subq veins, lipomas, right lower leg hemhypertrophy)

A

Proteus syndrome

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60
Q

Most common tumor in Proteus syndrome

A

Lipoma (less likely ovarian cystadenoma, meningioma, testicular tumors, parotid monomorphic adenoma)

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61
Q

Mutation in extensive phakomatosis pigmentovascularis and dermal melanocytosis

A

GNAQ and GNA11

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62
Q

What further evaluation should patients with extensive phakomatosis pigmentovascularis (and sturge weber) undergo?

A

neurologic and ophthalmologic

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63
Q

At what age does the spinal vertebra ossify

A

6 months

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64
Q

What brachial cleft has >90% of the anomalies?

A

2nd brachial cleft

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65
Q

Where do first brachial cleft cysts occur

A

close to the auricle

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66
Q

Which brachial clefts are more likely to have an internal opening

A

3rd and 4th

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67
Q

Cutaneomeningospinal angiomatosis is aka?

A

Cobb syndrome

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68
Q

Name the ds: presence of dermatomal arterrovenous malformation (AVM), a fast flow intramedullary spinal AVM and a vertebral AVM in the same segment

A

Cobb syndrome aka cutaneomeningospinal angiomatosis

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69
Q

What abx inhibits production of bacterial toxin in SSSS

A

Clindamycin

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70
Q

What strains of staph cause SSSS

A

Phage group II (57 and 71) which produce the exfoliative toxin

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71
Q

What is the target of toxins in SSSS

A

desmoglein 1: disruption of the epidermal granular layer and bulla formation

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72
Q

Who is more susceptible to SSSS

A

infants, young children and adults with chronic renal insufficiency

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73
Q

Where does SSSS start? Spread next?

A

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

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74
Q

How long can scaling and desquamation continue in SSSS?

A

4-7 days, but will heal without scarring

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75
Q

What is the mortality rate for SSSS in children? In adults?

A

3% mortality in kids
>50% mortality in adults

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76
Q

What is the mutation that leads to capillary malformation-arteriovenous malformation (CM-AVM)

A

RAS-A1

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77
Q

Name 7 diseases in the PROS spectrum dt mutation in PIK3CA

A
  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
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78
Q

Parkes Weber vs Klippel Trenaunay

A

Parks Weber is fast flow AV malformations/shunts

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79
Q

T/F Patient with Klippel-Trenauny Syndrome are at risk of pulmonary embolism due to vascular malformations and hypercoagulability

A

True

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80
Q

What are the most common associated sx in morphea

A

arthralgias

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81
Q

Macrocystic lymphangioma aka _____

A

cystic hygroma

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82
Q

Ds associated with cystic hygroma

A

Turner syndrome (also Down syndrome and noonan and achondroplasia)

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83
Q

Rare but dangerous complication of arteriovenous malformations

A

High output cardiac failure

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84
Q

Name two disease that can exhibit kasabach-merritt phenomenon (thrombocytopenia and consumptive coagulopathy)

A

Tufted angiomas or kaposiform hemangioendotheliomas

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85
Q

What is obstructed in Miliaria crystallina

A

superficial obstruction of eccrine sweat duct at the level of the stratum corneum

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86
Q

What is obstructed in Miliaria rubra

A

eccrine sweat glans at the level of the Malpighian layer of the epidermis (basal and spinous layer)

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87
Q

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

A

Porokeratotic eccrine ostial and dermal duct nevus

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88
Q

3 cm circinate plaque with keratotic border on extremities in infancy and childhood (type of porokeratosis)

A

porokeratosis of mibelli

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89
Q

PWS on the superior face (large and bilateral V1) + neurologic and ocular anomalies

A

Sturge Weber Syndrome

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90
Q

T/F: PHACE syndrome is associated with segmental facial hemangiomas

A

True

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91
Q

T/F: Port Wine Stain is associated with cardiac defects

A

False

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92
Q

What should you be aware of in a patient with an epidermal nevus of the epidermolytic hyperkeratosis type?

A

Their child could inherit generalized epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma in offspring)

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93
Q

Mutation and inheritance of epidermolytic icthyosis (bullous CIE)

A

KRT1, KRT10 AD

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94
Q

What are the stages of Schobinger classification of AVMs

A
  1. Quiescent
  2. Growing-may be pulsatile and have a thrill
  3. Pain, bleeding, ulceration, lytic bone lesions (Destruction)
  4. Decompensating cardiac failure
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95
Q

Name the syndrome: dermal melanocytosis + lysosomal storage ds + gargoyle appearance

A

Hurler Syndrome–classic presentation with extensive blue pigmentation of both dorsal and ventral surfaces

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96
Q

Nearly all CHILD patients are male or female

A

Female (congenital hemidysplasia, icthyosiform erythroderma, and limb defect)

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97
Q

Hyperpigmentation and ambiguous genatalia

A

Congenital adrenal hyperplasia

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98
Q

True or False: The number of skin manifestations of proteus correlates with the number of extracutaneous manifestations

A

True

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99
Q

Most common tissues affected in proteus syndrome

A

Skin and Bones

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100
Q

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

A

Proteus syndrome

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101
Q

Name the ds: AKT1 kinase (oncogene that encodes the serine threonine protein kinase AKT)

A

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

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102
Q

What does CLOVES stand for and what type of vascular lesion is a feature

A

Congenital
Lipomatous
Overgrowth
Vascular malformations (high flow paraspinal vascular lesions consistent with AVM)
Epidermal nevi
Scoliosis/skeletal and spinal abnormalities

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103
Q

Hairs showing a waxy, irregular outline and flattened shaft along with fractures with alternating light and dark bands

A

Trichothiodystrophy–AR disorder characterized by sulfur-deficient hair; due to several related genetic defects involving TFIIH/XPD-XPB complex

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104
Q

Syndromes associated with Pili Torti

A
  1. Menkes syndrome
  2. Crandell syndrome
  3. Bjornstad syndrome
  4. Urea cycle (citrullinemia, argininosuccinic aciduria)
  5. Netherton’s
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105
Q

Classic netherton’s hair finding

A

trichorrhexis nodosa and trichorrhexis invaginata

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106
Q

Name the ds: nevus sebaceous, central nervous system, ocular abnormalities, hypophosphatemic vit D resistant rickets (possible mosaicism of the bone for HRAS defects)

A

Schimmelpenning syndrome

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107
Q

Name 2 ds with stippled epiiphyses and ipsilateral hypoplasia

A
  1. Conradi-Hunermann syndrome
  2. CHILD syndrome
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108
Q

What ds is associated with polyostotic fibrous dysplasia?

A

McCune Albright Syndrome

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109
Q

What bone anomaly is associated with Goltz syndrome (aka focal dermal hypoplasia)

A

Vertical striations in the metaphyses of long bones aka osteopathia striata

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110
Q

Asymptomatic round to oval opacities consistent with osteopoikilosis is a feature of ____

A

Buschke Ollendorff Syndrome

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111
Q

What does PELVIS stand for?

A

Perineal hemangioma
External genital malformations
Lipomyelomeningocele
Vesicoreal abnormalities
Imperforate anus
Skin tag

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112
Q

Best imaging in PELVIS

A

MRI

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113
Q

Name the KRT: Epidermolysis bullosa simiplex-dowling meara subtype

A

KRT 5 and 14

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114
Q

Name the mutation: acral peeling skin syndrome

A

Transglutaminase 5

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115
Q

Name the mutation: Epidermolytic icthyosis (formerly epidermolytic hyperkeratosis and bullous congential icthyosiform erythroderma)

A

KRT 1 and 10

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116
Q

Name the mutation: Junctional Epidermolysis Bullosa (herlitz)

A

Laminin 5 (aka Laminin 332)

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117
Q

Name the mutation: Vorner PPK (epidermolytic PPK of Vorner)

A

K9

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118
Q

Name the mutation: Dowling Degos

A

Keratin 5

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119
Q

Name the mutation: Naegli-Franceschetti-Jadassohn Syndrome

A

Keratin 14

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120
Q

What 2 diseases are caused by mutations in PTEN tumor suppressor genes?

A

Bannayan Riley Ruvalcaba (pigmented macules on glans penis, lipomas, macrocephaly and mental retardation)
Cowden

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121
Q

What is caused by a mutation in RASA1–a tumor suppressor gene?

A

Parkes Weber Syndrome and Capillary malformation-AV malformations

122
Q

Ankyloblepharon-ectodermal dysplasia-clefting syndrome is also known as what

A

Hay-wells syndrome: wiry sparse hair or alopecia, cleft palate, absent or dystrophic nails, partial anhidrosis, PPK

123
Q

True or False: Patients with severe psoriasis have a greater risk for obesity than patients with mild psoriasis

A

True

124
Q

What is the most common comorbidity of pediatric psoriasis

A

Obesity

125
Q

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

A

True (can also include the linea nigra)

126
Q

Where is pigmentation more pronounced in adrenal insufficiency?

A

palmar creases, flexural areas, orogenital mucosal surfaces

127
Q

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?

A

x-linked hypohidrotic ectodermal dysplasia (XLHED) dt mutation in EDA gene (ectodysplasin)

128
Q

Common ocular complication in hypohidrotic ectodermal dysplasia

A

Keratoconjunctivitis sicca–due to meibomian gland dysfunction leading to decreased lubrication of the eye

129
Q

Name the syndrome: females with missing or conical teeth, sparse hair, segments of hypohidrosis due to random x inactivation, impaired breast development

A

hypohidrotic ectodermal dysplasia

130
Q

Dx: microcystic lymphatic malformation, large in the axilla
Next step?

A

MRI

131
Q

If symptomatic or bothersome, what is tx of neonatal cephalic pustulosis

A

ketoconazole (tx of the malazzesia)

132
Q

What features of spinal dimples increase the risk of associated spinal dysraphism?

A
  1. size > 5mm
  2. location >2.5 cm from anus
  3. dimple that appears with another skin lesion (ie adjacent hemangioma)
133
Q

Ideal tx of median raphe cyst

A

excision

134
Q

Mutation that causes Hutchinson Gilford Progeria

A

Lamin A (LMNA)

135
Q

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

A

Werner Syndrome (RecQL2) gene

136
Q

Name the ds: congenital blistering disorder with photosensitivity and poikiloderma

A

Kindler Syndrome (KIND1 mutation)

137
Q

Name the ds: poikiloderma of the face, buttocks, extensor extremities and hypoplastic or absent thumbs

A

Rothmund-Thomson (RecQL4 mutation)

138
Q

Name the ds: Photosensitivity, poikiloderma, neurologic degeneration

A

Cockayne syndrome (ERCC6 and ERCC8)

139
Q

Symptoms of generalized morphea

A

Arthralgias

140
Q
A
141
Q

Tx for infant with miliaria rubra

A

Avoidance of heat

142
Q

What port wine stain has the highse risk? Second highest risk?

A

V1 and V2 followed by V1

143
Q

What further evalation is needed in a port wine stain with V1 and V2 distribution?

A

Ophthalmologic examination and MRI

144
Q

Encephalotrigeminal angiomatosis

A

Sturge Weber Syndrome

145
Q

True/False: Imaging is recommended in port wine stain of V2/V3

A

False: low risk for sturge weber (encephalotrigeminal angiomatosis)

146
Q

CLOVES syndrome

A

Congenital

Lipomatous

Overgrowth

Vascular malformations (lymphatic/capillary/venous)

Epidermal Nevi

Skeletal abnormalities/Scoliosis

147
Q

Name the PIK3CA overgrowth syndromes (4) aka PROS (PIK3CA related overgrowth syndromes)

A

CLOVES syndrome

Klippel Trenaunay syndrome

Megalencephaly (Macrocephaly)-capillary malformation syndrome (MCAP)

Fibro-adipsose vascular anomaly (FAVA)

148
Q

Name the gene: Maffucci

A

IDH1

149
Q

Name the gene: Parkes-Weber

A

RASA1

150
Q

Name the gene: Proteus

A

AKT1

151
Q

Name the gene: Sturge Weber

A

GNAQ

152
Q

Name the ds: Triad of diffuse palmoplantar keratoderma, nail dystrophy and hyptrichosis

A

hidrotic ectodermal dysplasia (aka Clouston’s)

153
Q

Mutation in Clouston’s

A

GJB6 gene which encodes gap junction protein connexin 30

154
Q

Name the ds: mutation in KRT6A, KRT6B, KRT6C, KRT16, and KRT17

A

Pachyonychia congenita (wedged shaped hyperkeratosis of the nails)

155
Q

Hidrotic ectodermal dysplasia vs pachyonychia congenita

A
  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
Q

What is the role of connexin 30

A

forming gap junctions to facilitate cell-to-cell cytoplasmic connection

157
Q

Name 3 ds caused by mutations in keratins (intermediate filaments that form the cytoskeleton of keratinocytes)

A

pachyonychia congenita, Vorner (KRT9), Unna Thost (KRT1)

158
Q

True or False: The alopecia, nail changes and keratoderma in hidrotic ectodermal dysplasia are progressive

A

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
Q

Why are connexin mutations dominant?

A

Connexin mutations are dominant because the abnormal protein complexes with normal protein, impairing the function of the normal protein; variable expressivity

160
Q

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

A

Transient neonatal pustular melanosis (neutrophils)

161
Q

Most brachial anomalies are the result of failure of obliteration of the ????

A

second cleft or pouch

162
Q

What can be inciting factors of brachial anomalies during weeks 4-8 in utero

A

toxic, mechanical, vascular

163
Q

Allergic contact dermatitis to diaper rubber components–name the chemical

A

Mercaptobenzothiazole (holster sign)

164
Q

What ethnicity is most likely to have transient neonatal pustular melanosis?

A

African American newborns (forehead, posterior ears, chin, neck, upper chest, back, buttocks, abdomen, thighs, palms, soles)

-fades in weeks to months

165
Q

What is the follow up for pediatric lichen sclerosus?

A

Lifelong condition

166
Q

What color in the hallmark feature of vulvar lichen sclerosus (in addition to classic figure 8 pattern, pain, pruritus, burning sensation)

A

Purpura

167
Q

Sequelae of lichen sclerosus

A

dysuria, local spotty bleeding dt skin fissuring, constipation

168
Q

Autoimmune ds associated with lichen slcerosus

A

celiac ds, alopecia areata, vitiligo

169
Q

PHACE syndrome

A

Posterior fossa malformation

Hemangioma

Arterial anomalies

Cardiac anomalies/aortic coarctation

Eye abnormalities

Sternal clefting

Supraumbilical abdominal raphe

170
Q

How to avoid hypoglycemia with propranolol

A

Give the medication with feeds (not dose dependent, not based on frequency)

171
Q

Tx of fetal scalp abscess (scalp lesion with associated erythema, warmth, hx of fetal scalp electrode)

A

incision and drainage with abx (untx can lead to osteomyelitis and sepsis)

172
Q

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

A

Caput succedaneum

173
Q

Name the process: associated with birth trauma, subperiosteal, does not cross cranial sutures; can lead to anemia, hyperbilirubinemia, present within hours of delivery

A

Cephalohematomas

174
Q

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)

A

Ectrodactyly ectodermal dysplasia and cleft palate syndrome (EEC) a/w p63

175
Q

refers to short digits

A

brachydactyly

176
Q

Name 2 p63 associated ectodermal dysplasias

A
  1. ectrodactyly, ectodermal dysplasia, and cleft palate (EEC)
  2. ankyloblepharon‐ectodermal dysplasia‐clefting (AEC) syndrome
177
Q

Term: digits that are bent laterally or medially

A

clinodactyly

178
Q

Somatic mutations in what ??? have been associated with nevous sebaceous

A

HRAS, KRAS

179
Q

What mutation is a/w pilomatricomas

A

B-catenin

180
Q

What mutation is a/w mastocytomas

A

c-KIT

181
Q

What is the mutation in Brooke Spiegler? What does this result in?

A

CYLD-cylindromas, spiradenoma, trichoepitheliomas

182
Q

What mutation results in multiple cutaneous and uterine leiomyomatosis

A

fumarate hydratase

183
Q

Name the ds: venous malformations (cutaneous and extracutaneous), endochondromas dt dyschondroplasia that can become malignant chondrosarcomas

A

Maffucci syndrome

184
Q

What is the mutation found in CM-AVM? What modality to further evaluate CM-AVM?

A

RASA1 mutation; MRI/MRA of brain and spinal cord

185
Q

What does hair color sign increase risk for in patient with aplasia cutis?

A

underlying cranial dysraphism (meningocele, encephalocele, heterotopic brain tissue)

MRI of the brain

186
Q

What stain is used in erythema toxicum neonatorum?

A

Wright stain–eosinophils (contrast with wright stain of HSV showing multinucleated giant cells)

187
Q

Name (3) syndromes associated with bilateral acromial dimples?

A

18q deletion syndrome, Say syndrome, Apert syndrome

188
Q

Name the deletion: growth/developmental delays, mental retardation, hypotonia, midface hypoplasia, microcephaly, strabismus, cleft lip and palate

A

18q deletion

189
Q

Cone shaped epiphyses of the phalanges (on imaging), large joint arthritis by adulthood, pear shaped nose, sparse hair–name the syndrome and the mutation

A

Trichorhinophalangeal syndrome type 1, TRPS1

190
Q

PORCN mutation (regulator of wnt signaling pathway)

A

Focal dermal hypoplasia (goltz syndrome)

191
Q

Name the syndrome: FOCAL

Female, XLD (lethal in males)

Osteopathia striata

Colobomas

Aplasia ectoderm elements

Lobster claw deformity

A

Focal dermal hypoplasia (Goltz syndrome or Gorlin-Goltz syndrome)

–also have verrucous papillomas (oral, genital, rectal)

192
Q

Name 2 syndromes a/w cleft palate

A

ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

193
Q

Name the allergen: pigments and dyes, green felt fabric, cosmetics, radiator coolants, and leather

A

Potassium dichromate

194
Q

Formaldehyde resin found in various clothing accessories (shin guards, wet suits, push-up bras)

A

P-tert-butylphenol

195
Q

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

A

Werner syndrome

196
Q

What is the mutation in Werner syndrome

A

RecQL2

197
Q

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)

A

Progeria

198
Q

anti-toposisomerase antibody (SCL-70)

A

Cutaneous systemic sclerosis–higher risk of interstitial lung disease

199
Q

Anticentromere antibody

A

Limited cutaneous systemic slcerosis

200
Q

What is mutation in Kindler syndrome

A

KIND1 (FERMT1) loss of function mutation

201
Q

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

A

Kindler Syndrome

202
Q

What ds is mottled pigmentation due to KRT5 mutation

A

Epidermolysis bullosa simplex

203
Q

Name syndromes with poikiloderma (3)

A

Bloom syndrome (hypogammaglobulinemia, infections)

Cockayne syndrome (photosensitivity, neurodegeneration ERCC6 or 8 mutation)

Rothmund-Thomson (hypoplastic thumbs RecQL4)

204
Q

Homozygous mutation in ITGA6 or ITGA4 encoding integrin alpha6 or beta4

A

Junctional epidermolysis bullosa with pyloric atresia, malformed small ears, GU abnormalities

205
Q

KRT1 or KRT10 mutation: thick hyperkeratotic plaques and palmoplantar keratoderma

A

KRT1

206
Q

Name the syndrome: extensive aplasia cutis congenita over the scalp in association with transverse limb defects, cardiac, CNS anomalies

A

Adams-Oliver syndrome (AR or AD inheritance)

207
Q

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

A

Gorham’s ds or Gorham-Stout Ds

208
Q

Name the antiseptic: not inactivated by blood, lasting antiseptic properties

A

Chlorhexidine–binds to the stratum corneum to give lasting antiseptic effects

209
Q

Oral counterpart to milia

A

Bohn’s nodules (gums)

Epstein’s pearls (roof of mouth and lateral palate)

210
Q

LUMBAR-what does it stand for

A

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
Q

Hereditary hemorrhagic telangiectasia AKA

A

Osler-Weber-Rendu Syndrome

212
Q

Mucocutnaeous telangiectasia and visceral AV malformations; presenting sign is often epistaxis

A

Hereditary hemorrhagic telangiectasia

213
Q

Name the syndrome: AD mutation in endoglin, activin receptor-like kinase 1

A

Hereditary hemorrhagic telangcietasia (HHT1=endoglin and activin receptor like kinase 1=ALK1=HHT2)

214
Q

Name the ds: present with epistaxis and anemia from GI bleeding

Type 1: pulmonary AVMS

Type 2: cerebral, hepatic AVMS

A

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)

215
Q

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

A

Ataxia telangiectasia (Louis Bar syndrome)

*female carriers of the ATM gene have high risk of breast cancer

216
Q

Name the ds: oculocutaneous telangiectasias appear around 3-5 years of age, ocular lesions often striking with subtin pinpoint skin lesions

A

Ataxia telangiectasia

217
Q

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

A

Ataxia telangiectasia

218
Q

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

A

Cobb syndrome (cutaneomeningospinal angiomatosis)

219
Q

Name the ds: vascular overgrowth, limb capillary-venous malfromation or capillary-lymphatic-venous malformation with progressive overgrowth of the affected extremity

A

Klippel-Trenaunay syndrome

220
Q

Name the ds: limb overgrowth secondary to a fast flow arteriovenous fistula

A

Parkes-Weber Syndrome

221
Q

PHACES syndrome–define

A

Posterior fossa malformation

Hemangioma-large facial hemangioma

Arterial anomalies

Coarctation of the aorta, cardiac abnormalities

Eye abnormalities

Sternal clefting and/or Supraumbilical raphe

222
Q

Name the syndrome: facial capillary malformation a/w ipsilateral ocular and leptomeningeal/brain anomalies

A

Sturge-Weber Syndrome

223
Q

Name the 4 stages of incontinentia pigmenti

A

Bullous

Verrucous

Hyperpigmented

Hypopigmented

224
Q

What is the next step if concerned about airway hemangiomatosis?

A

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
Q

What keratin of epidermolytic icthyosis is a/w severe palm and sole involvement

A

Epidermolytic itcthyosis keratin1 (not keratin 10)

226
Q

Mutation in icthyosis vulgaris

A

filaggrin

227
Q

Mutation in x-linked icthyosis

A

steroid sulfatase

228
Q

Connexin 26 mutation

A

keratitis-icthyosis-deafness syndrome

229
Q

True/False: peripheral blood sample in erythema toxicum neonatorum canc show eosinophils

A

True (7-15%)

Writght stain shows predominantly eosinophils

230
Q

Cause of transient neonatal cyanosis (blue baby)

A

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
Q

Bronze baby–cause

A

hyperbilirubinemia (bilirubin photoisomers or photo-oxidation of copper bound porphyrins)

232
Q

Rare, linear, psoriasiform plaque that presents during childhood (<5 yrs old) and many spontaenously resolve

-very pruritic, tx is difficult

A

ILVEN (inflammatory linear verrucous epidermal nevus)

233
Q

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
A

Gorham Stout Disease

234
Q

What is the treat of gorham stout ds

A

Sirolimus (same tx as in other PIK3Ca)

235
Q

What medication is used for vesciles and bullae in epidermoylsis bullosa by promoting collagen production

A

gentamycin

236
Q

What 2 medicines are effective sclerosants for macro and micro cystic lymphatic malfromations (NOT for intra-articular malformations)

A

Doxycycline and bleomycin

237
Q

Name the ds: p63 related ectodermal dysplasia a/w recurrent, midface erosive scalp dermatitis/erosions at birth, midface hypoplasia, ankyloblepharon

A

Ankyloblepharon-ectodermal-clefting (AEC)

*often misdiagnosed as EB

238
Q

What complication is a/w ankyloblepharon-ectodermal dysplasia-clefting (AEC)

A

scarring alopecia and recurrent staphyloccal infections (sepsis)

239
Q

Transcription factor critical for the development of the epidermis, midface, limbs, leading to anomalies in ectodermal dysplasias

A

p63

240
Q

Complication a/w ***: tracheolaryngeal blistering, softe tissue swelling, airwary obstruction

A

Junctional epidermolysis bullosa-herlitz type

241
Q

Name the EB simplex: primarily on hands/feet, normal lifespan

A

EBS-localized (weber-cockayne)

KRT5 and KRT14

242
Q

Name the EBS: any site of friction, normal lifespan, bullae worse in heat

A

EBS generaliezed intermediate (koebner)

243
Q

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

A

EBS generalized severe–Dowling Meara or EBS herpetiformis

244
Q

Name the EBS: acral blisters, mottle hyperpigmentation on the trunk and limbs

A

EBS-mottled pigmentation (very rare subtype, normal lifespan)

245
Q

Name the EBS: bulla at birth with delayed muscle weakness

A

EBS-muscular dystrophy

  • AR
  • Plectin
246
Q

Where is the level of the split in intraepidermal EBS

A

intraepidermal

247
Q

Where is the level of the split for junctional EB

A

lamina lucida of BMZ

248
Q

Name the JEB (junctional epidermolysis bullosa): AR, laminin 332

-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

A

JEB-generalized severe (previously JEB herlitz or EB lethalis)

249
Q

Name the JEB: Laminin 332, Collagen XVII, AR

-generalized blisters, oral, heals with atrophic scars, scarring alopeci, nail dystrophy, dental enamel hypoplasia, corneal erosions, survive to adulthood

A

JEG-generalized intermediate (non-herlitz generalized atrophic benign EB)

250
Q

Name the JEB: AR, a6b4 integrin

  • generalized blisters with large congenital absence of skin, pyloric atresia, ureteral stenosis, hydronephrosis, rudimentary malformed ears
  • poor prognosis with mortality in infancy
A

JEB-pyloric atresia

251
Q

What is the level of the split in dystrophic EB

A

below the lamina densa of the BMZ

252
Q

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

A

DDEB (dominant dystrophy EB)

Cockayne-Touraine Type

253
Q

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)
A

DDEB (dominant dystrophic EB) Pasini type

254
Q

Name the EB: AR, COL7A1 (lack of anchoring fibrils), collagen VII

-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

A

Recessive dystrophic EB; generalized severe (previously known as Hallpeau siemens)

255
Q

Name the EB: AR, COL7A1, collagen VII, birth

-generalized blisters, heals with atrophic scars, milia, may be difficult to distinguish from DDEB clinically

A

RDEB generalized intermediate (previously known as non-hallpeau siemens type)

256
Q

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

A

Kindler syndrome (Acrokeratotic poikiloderma)

257
Q

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

A

Kindler syndrome

258
Q

Most common complication of blue rubber bleb nevus syndrome?

Rare complications of blue rubber bleb nevus syndrome?

A

GI bleed to chronic anemia

Rare: orthopedica and CNS

259
Q

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)

A

Epidermolytic icthyosis (previously bullous congenital ichthyosis erythroderma)

KRT1 and KRT10

AD

260
Q

What are the diagnositic criteria for proteus syndrome:

A

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
Q

What to avoid in neonatal acne?

A

Topical steroids (baby oils, creams, ointments, lotions)

262
Q

Best next step of a brachial cleft cyst

A

Discuss with patient it is a benign brachial cleft cyst, order and MRI and refer to ENT for removal

263
Q

What is the cause and tx of miliaria rubra

A

Occluded eccrine ducts in the lower intraepidermis with dermal inflammation in the neck fold and chin

Tx: correct overheating

264
Q

Numerous milia, absent dermatoglyphs in neonates, frequent erosions of the skin on the hands and feet

A

Basan syndrome (AD mutation in SMARCAD1)

265
Q

adermatoglyphia, generalized irregularly shaped hypo and hyperpigmented macules

A

Dyschromatosis universalis hereditaria

266
Q

AD ectodermal dysplasia, due to mutation in KRT14, lack of dermatoglyphs, reticulate hyperpigmentation

A

Naegeli-Franceschetti

267
Q

Milia in childhood (not birth), follicular atrophoderma, increased risk of BCC

A

Basex-Dupre-Christol

268
Q

Ophthalmological abnormalities in port-wine stain

A

glaucoma

269
Q

Brain abnormalities with V1 port wine stain

A

abnormal venous drainage, pial angiomas, seizures

-obtain MRI if neurologic issues (seizures, etc)

270
Q

What is the cause of harlequin color change

A

immaturity of the hypothalamic centers that control the tone of peripheral blood vessels

271
Q

XLD, inactivating mutations in NSDHL

A

CHILD

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

272
Q

True/False: Lip pits can occasionally extend into the orbicularis oris muscle and communicate with salivary glands via a blind sinus tract

A

True

273
Q

What percent of hidrotic ectodermal dysplasia patients may have only onychodystrophy as the physical exam finding

A

30%

274
Q

Nail dystrophy, blaschkoid patches of hypoplastic skin, fat herniation

A

focal dermal hypoplasia

275
Q

What brachial pouch and cleft normally remain in opposition in adulthood

A

Firt

276
Q

What brachial pouch gives rise to the eustachian tube, typanic cavity

A

first pouch

277
Q

What cleft develops into th external auditory meatus

A

First cleft

278
Q

What brachial pouch form the palantine tnosil

A

second pouch

279
Q
A
280
Q

What pouch forms the inferior parathyroid and thymus

A

third pouch

281
Q

What pouch forms the superior parathyroid and ultimobrachial body

A

Fourth and sixth

282
Q

Name the syndrome: capillary malformation with underlying soft tissue and bony hypertrophy that can lead to limb length discrepency (need for orthopedic intervention)

A

Klippel-Trenaunay syndrome

283
Q

Name 5 syndromes a/w kyphoscoliosis

A
  1. Ehler’s danlos syndrome
  2. Marfan syndrome
  3. Proteus syndrome
  4. Osteogenesis imperfecta
  5. Cowden syndrome
284
Q

Name the syndrome: short stature, scaling blaschkoid icthyosis that resolved into follicular atrophoderma, skeletal stippling, shortened long bones, alopecia, cataracts, sensorineural hearing loss

A

Conradi Hunerman Happle Syndrome (X-linked Dominant Chondrodysplasia)

285
Q

What three things can desquamation at the time of birth be a sign of?

A

Abnormal: postmaturity, intrauterine anoxia, icthyosis

286
Q

Name the syndrome: natural history of improvement of blisters with age with the development of thick scales in flexural areas; blisters heal without scarring

A

Epidermolytic hyperkeratosis; autosomal dominant

287
Q

Name the syndrome: port-wine stain (PWS), dermal melanocytosis (mongolian spot) +/- nevus of ota or ito

-most common subtype

A

Phakomatosis pigmentovascularis

288
Q

PWS + Epidermal Nevus

A

Phakomatosis pigmentovascularis type 1

289
Q

Characterized by port wine stain and nevus spilus

A

Phakomatosis pigmentovascularis type III

290
Q

Characterized by dermal melanocytosis (mongolian spot) and nevus spilus and port wine stain

A

Phakomatosis pigmentovascularis type IV

291
Q

What additional feature can accompany phakomatosis pigmentovascularis types II-IV

A

nevus anemicus

292
Q

Generalized scaling, erythroderma, hypernatremic dehydration

  • 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
A

Nethertons

293
Q

What does SPINK5 encode

A

Serine protease inhibitor LEKTI

294
Q

What is the cause of trichorrhexis invaginata (‘bamboo hairs’)

A

defect in keratinization of the inner root sheath

-defect appears in Netherton’s after 1 year of age

295
Q

Systemic manifestations of Netherton’s

A
  1. intestinal villous atrophy
  2. diarrhea
  3. FTT
  4. Food allergies, asthma, urticaria, anaphylaxis
  5. Atopic dermatitis with infx (Staph aureus, papillomavirus–> SCC)
296
Q

AD with high penetrance, variable expression–clefting with lip pits due to mutation in the interferon regulatory factor 6 gene

A

Van der Woude Syndrome

297
Q

Multiple cystic structures along the lingual and vestibular alveolar ridges

A

Bohn’s nodules

298
Q

What is the most common form of xeroderma pigmentosum in the US?

A

XP-C (no neurologic effects)

299
Q

What is the most common form of xeroderma pigmentosum in Japan

A

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
Q

RecQL4 helicase gene mutation

A

Rothmund Thomson

301
Q

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)

A

Rothmund Thomson

302
Q
A

Peds Core Exam (2 decks)

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