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Pediatrics Flashcards

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1
Q

Form of Oculocutaneous albinism with complete loss of pigment at birth, gray blue irides

Gene?

Other associated features?

A

OCA1a: TYR (absent); tyrosinase negative

Markedly decreased visual acuity

Increased risk of SCC

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2
Q

Form of oculocutaneous albinism with no pigmentation at birth, but develop some pigmentation over time

Both amelanotic and pigmented nevi

Associated complications?

A

OCA1b; TYR (decreased to 5-10% of normal); otherwise known as yellow mutant albinism

Milder ocular complications than OCA1a

Temperature sensitive variant (OCA1b TS): Functions only at cool sites

Where would the pigment be?

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3
Q

Most common form of oculocutaneous albinism

Africans

Light Brown Hair

Gray/Tan Irides

Other conditions with similar skin findings

A

OCA 2; (P gene; pink-eyed dilution)

Tyrosinase positive

1% of Prader-Willi and Angelman syndrome (mutation on 15q, has OCA2 gene)

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4
Q

Very Rare Oculocutaneous Albinism

Africa and New Guinea

Reddish-Brown skin and red hair

Blue-Brown Irides

A

OCA 3; TYRP1

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5
Q

OCA4

Population?

Clinical Presentation?

Gene?

A

Japan, 25% of OCA

Variable skin, similar to OCA2

solute carrier family 45; member 2 (SLC45A2); Formerly MATP

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6
Q

Oculocutaneous Albinism

What is the problem?

Which cutaneous malignancies are they at risk for?

Why?

A

abnormal melanin, melanosome biosynthesis and transport (skin, hair, eyes)

SCC (most common), BCC, and melanoma

They have normal number of melanocytes, but decreased melanin

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7
Q

What is this condition?

What is the gene mutation?

What are the characteristic changes in the affected cells?

What are associated systemic symptoms? (Hint three primary organ systems)

A

Chediak-Higashi

Oculocutaneous albinism (only slivery hair with eye)

Gene: LYST/CHS1

Impaired melanosomes (giant), platelet granules, giant PMN granules

Blood: Prolonged Bleeding Time; lymphoproliferative accellerated phase/HPS (death by age 10)

Neurological degeneration

Immunodeficiency: EBV, gingivitis, periodontitis

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8
Q

What is the name of this syndrome?

What are the types?

What are the genes associated with each type?

What are the systemic features of this disease?

Other Similar syndromes?

A

Griscelli (all AR)

Aberrant translocation of melanosomes along microtubules

Trichoscopy: large and irregularly spaced melanin

Normal granules, no giant melanosomes

GS1: (MYO5A) Neuro

GS2: (RAB27A) Immunodeficiency with HLH

GS3: (MLPH)) skin limited

Elejalde: Variant of GS1?

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9
Q

Puerto Rican with light hair, multiple bruises, who presents with progressive shortness of breath.

1) Disease?
2) Mutation?
3) What is the main problem?
4) Other systemic complications?
5) Most common cause of death?

A

1) Hermansky-Pudlak
2) AR (HPS1-HPS9)
3) Accumulation of ceroid lipofuscin

Disorder of lysosomal-related organelles (melanosomes, platelet dense granules)

4) Bleeding diathesis

Pale Irides: photophobia, strabismus, nystagmus

granulomatous colitis, progressive pulmonary fibrosis, cardiomyopathy, and renal failure

5) pulmonary fibrosis

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10
Q

Disease?

Inheritance?

Mutation?

Other Internal Sequelae?

A

Piebaldism

AD

c-KIT protooncogene or zinc finger (SNAI2, SLUG)

White forelock +/- adjacent leukoderma

No systemic involvement

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11
Q

What is the disease?

How many Types?

Mutations?

Characteristic features?

A

Waardenburg Syndrome

AD

white forelock, heterochromia irides, broad nasal root, and dystopia canthorum

WS1: PAX3

WS2: MITF (SNAI2)

WS3: PAX3

WS4: SOX10, EDNRB, EDN3

WS1: deafness (20-40%)

WS2: no dystopia canthorum, deafness common

WS3: Deafness + Upper limb abnormalities (hypoplasia, contracture, syndactyly)

WS4: WS1+ Hirschprungs

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12
Q

Child with large hyperpigmented patch on the side of the chest

Disease?

Inheritance?

Gene?

Systemic Manifestations?

Laboratory?

A

1) McCune-Albright
2) Non-inherited, post-zygotic, F>M
3) GNAS1
4) CALMS, polyostotic fibrous dyplasia, endocrine dysfunction
4) bone pain, visible skeletal deformit, fractures

Precocious puberty, hyperthyroidism, acromegaly, hypophosphatemic rickets, and infantile Cushing syndrome

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13
Q

Name of Disease?

Inheritance?

Gene?

Associated Findings?

A

Reticuate acropigmentation of Kitamura

AD (Japanese, rare)

ADAM10 (metaloproteinase and disintegrin)

lentigo-like hyperpigmented macules coalescing into a reticate pattern on the hands and feet

Palmoplantar its, abnormal dermatoglyphs

Histo: Increased melanin and melanocytes

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14
Q

Disease?

Inheritance?

Gene/Mutation?

Subtype?

A

Dowling-Degos disease

AD

keratin 5

Galli-Galli (also keratin 5, but acantholysis on histology)

Can also have comedone-like lesions, pitted perioral scars, EIC, and Hidradenitis Suppurativa

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15
Q

Name of disease?

Characteristic features?

A

Leiner’s disease

Seborrheic like dermatitis-> erythroderma

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16
Q

What is this syndrome?

What is the gene and inheritance?

What is the mneumonic?

What are the associated systemic manifestations?

A

Noonan with multiple lentigines

PTPN11/SHP2, RAF1 (AD)

L(entigines), E(ECG), O (Ocular hypertelorism), P(ulmonic Stenosis), A(bnormal genitalia), R(etardating of growth), D(eafness)

Lentigines develop at 4-5 years of age

HCM

short stature, skeletal-mandibular prognatihism

Important: granular cell myoblastoma

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17
Q

Diagnosis?

Gene? Inheritance?

Associated Systemic Manifestations?

A

Carney Complex (LAMB/NAME)

PRKAR1A (AD)

Multiple lentigines, ephelides, blue nevi (epithelioid); all fade with time, skin myxomas

Atrial myxomeas (50-80%)

Endocrine neoplasms (adrenocortiacal, pituitary, thyroid)

Sertoli cell tumor (aka testicular cancer)

Psammomatous melanocytic schwannoma

Breast ductal carcinoma

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18
Q

Diagnosis?

Gene? Inheritance?

Systemic Manifestations?

A

Peutz-Jeghers

STK11/LBK, AD

Pigmented macules on lips, digits, and other mucosa by age 20

GI polyps

93% develop GI cancer before age 65, but also lung and breast cancer

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19
Q

Diagnosis?

Gene, Inheritance?

Systemic Manifestations?

A

Laugier-Hunziker

Acquired!

Skin: pigmented macules on lips, buccal mucosa, genitals, melanonychia in 50%

No increased cancer risk

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20
Q

Diagnosis?

Gene? Inheritance?

Skin Findings?

Systemic Manifestations

A

Cronkhite-Canada

Acquired

Older (age ~59, M>>F)

Lentigines of the hands, feet, and buccal mucosa

Nail Dystrophy, Alopecia

Intestinal polyposis-> Protein losing enteropathy and chronic diarrhead

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21
Q

These hyperpigmented macules appeared within the first year of life, and are only where pictured, no other body areas are affected.

Diagnosis?

Gene? Inheritance?

Systemic Manifestations?

A

Centrofacial Lentiginosis (Touraine’s Syndrome)

Unknown, AD

Developmental delay, Seizures,

Mitral valve stenosis

Dwarfism, Skeletal abnormalities

Endocrine dysfunction

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22
Q

Diagnosis?

Gene/Inheritance?

Skin Manifestations?

Systemic Manifestations?

A

Bannayan-Riley-Ruvalcaba

PTEN, AD -> failure of programmed cell death

Penile lentigines, lipomas

angiokeratomas, high flow vascular anomalies

macrocephaly, long philtrum, thin upper lip

facial acanthosis nigricans and verruca like lesions

Systemic: Developmental delay, intestinal polyps, hashimoto thyroiditis,

increased risk of malignancy?? (More evidence for CS)

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23
Q

Disease?

Population?

Gene/ Inheritance?

Systemic Involvement?

A

Dyschromatosis Symmetrica Hereditaria

Japanese/Chinese

ADAR (SRAD), AD

RNA-specific adenosine deaminase

Presents by 6yo with dyschromia, hyper and hypopigmented macules on face and dorsal aspect of the extremities

No known systemic disease

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24
Q

Disease?

Gene/Inheritance?

Sytemic Involvement

A

dyschromatosis universalis hereditaria

Japanese

ABCB6 (ATP binding cassette subfamily B), AD/AR

Generalized or torso dominant brown macules with scattered hypopigmented macules with a mottled appearance

Can have nail pterygium

Reported: short stature, idiopathic torsion dystonia, x-linked ocular albinism, neurosensory hearing loss

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25
Q

Disease?

Gene/Inheritance?

Skin Features?

Systemic Involvement?

A

Dyskeratosis Congenita

Zinsser-Engman-Cole syndrome

TERT, TERC (AD)

DKC1, TINF2 (XLR)-> most common

Genes involved in telomere maintenance

Oral leukoplakia (premalignant), reticulated dyspigmentation, onychodystrophy (anonychia, pterygium, ridging, splitting

Palmoplantar hyperkeratosis,

Systemic: hematologic malignancies, squamous cell carcinoma of the mucosa (genital and oral)

pulmonary fibrosis

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26
Q

Disease?

Gene? Inheritance?

Skin Manifestations?

Systemic Manifestations?

A

Naegeli–Franceschetti– Jadassohn Syndrome/ Dermatopathia Pigmentosa Reticularis

keratin 14 (both NFJS and DPR)-> allelic to ectodermal dysplasia disorders

Remember this is also the mutation in EB simplex

Skin:

NFJS (a-d,g): reticulated hyperpigmentation on the abdomen, improves after puberty

palmoplatar keratoderma, adermatoglyphia, hypohidrosis

dental anomalies (not in DPR)

DPR (e,f): diffuse non-scarring alopecia (not in NFJS), persistent reticulated hyperpigmentation of the torso

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27
Q

EB Simplex

Level of Split

Inheritance?

Epidemiology?

Characteristic Features?

A

Intraepidermal split

AD (except for EBS with muscular dystrophy, AR)

Most common form

Does not heal with scarring

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28
Q

Diagnosis?

Mutation? Inheritance?

Exacerbating factors?

Other Skin Involvement?

A

Epidermolysis Bullosa Simplex (localized or webber-cockayne)

KRT 5, 14 (AD)

Worse with heat in summer, localized to sites of friction on soles > palms

Can also rarely have oral ulcerations, palmoplantar hyperkeratosis, nail dystrophy

Normal Life Span

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29
Q

Diagnosis?

Characteristics?

Mutation/Inheritance?

Systemic Symptoms?

A

Epidermolysis Bullosa Simplex, Generalized Intermediate (Koebner)

Present at birth or in early infancy, bullae at any site of friction

Can have oral blisters, plamoplantar hyperkeratosis, +/- nail dystrophy

K5, K14 (AD)

Normal Life Span

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30
Q

Diagnosis?

Mutation/Inheritance?

Characteristic Features?

Age of Onset?

Systemic Involvement?

A

Epidermolysis Bullosa Simplex, Generalized Severe (Dowling-Meara)

KRT 5, KRT 14 (AD)

herpetiform clustered blisters, generalized blisters, may have some scarring

Oral blisters, ++ palmoplantar keratoderma, ++ nail dystrophy

Presents at birth or within the first few months

Clumped tonofilaments on EM

Usually normal life span, some early death from sepsis, anemia, or growth failure

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31
Q

Diagnosis?

Gene/Inheritance?

Age of Onset?

Characteristic Features?

Systemic Involvement?

A

Epidermolysis Bullosa Simplex with Mottled Pigmentation

KRT5, KRT 14 (AD)

childhood

Acral blisters, mottled pigmentation on the trunk and extremities

Nail dystrophy, puntate palmoplantar keratoderma

Normal lifespan

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32
Q

Diagnosis?

Gene/Inheritance?

Characteristic Features?

Age of Onset?

Systemic Involvement?

Other diseases with same mutation?

A

EBS with muscular dystrophy

Plectin (PLEC), AR

Generalized blisters that leave atrophic scars

Nail hyperkeratosis, dental abnormalities, scarring alopecia

Blistering at birth

Muscular dystrophy in infancy or later in life

Can have uretheral stricture, visual defects, and muscle weakness

EBS with pyloric atresia (Plectin, a6B4)

EBS-ogna (plectin)-> mostly acral blistering

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33
Q

Junctional EB

Inheritance?

Mutations?

Basement Membrane Zone?

Clinical Characteristics?

Epidemiology?

A

AR

Laminin 332, BPAG 2, a6B4

Lamina Lucida

Enamal Hypoplasia-> Dental Caries

Rarest form of EB

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34
Q

Disease?

Inheritance? Gene?

Age of Onset?

Systemic Involvement?

A

Junctional Epidermolysis Bullosa- Generalized Severe (Herlitz)

Laminin 332 (premature termination codon), AR

birth

generalized blisters health without scarring, buttocks, perioral, ears

hoarse cry (laryngeal involvement), perioral granulation tissue, nail dystrophy

Death within the first few years of life from respiratory failure or septicemia (90% by age 1)

FTT and anemia

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35
Q

Disease?

Gene? Inheritance?

Age of Onset?

Systemic Manifestations?

A

Junctional Epidermolysis Bullosa- Generalized Intermediate

Laminin 332, Col 17a (BPAG 2/180); AR

Birth

Generalized blisters and oral involvement, improves with age

heals with atrophic scars, granulation tissues uncommon

Nail dystrophy, dental enamal hypoplasia, corneal erosions

Survival into adulthood

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36
Q

Junctional EB with pyloric atresia

Mutation? Inheritance?

Age of Onset?

Systemic Complications?

A

a6B4, AR

Birth

Generalized Blisters, often with congenital aplasia cutis

GI, GU mucosal involvement

urethral strictures, hydronephrosis, malformed ears

~80% mortality in infancy

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37
Q

Disease?

Mutation, Inheritance?

Age of Onset?

Cutaneous Features?

Systemic Involvement?

A

Dominant Dystrophic Epidermolysis Bullosa

Coll 7 (missense mutation), AD

Birth

Cockayne-Touraine-> Generalized, heal with scars and milia-> improves over time

Pasini-> all of the above + albopapuloid papules (see image)

Nail dystrophy, oral blisters

rare esophageal strictures, anemia

Survival Into Adulthood

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38
Q

(Ignore left upper image!)

Disease?

Gene, Inheritance?

Age of Onset?

Cutaneous Manifestations?

Systemic Manifestations

A

Recessive Dystrophic Epidermolysis Bullosa (Halopeau-Siemens Type)

Col 7 (stop?), AR

Birth

Generalized blistering

heal with milia and scarring -> contracture of digits and limbs

(Pseudosyndactyly) Mitten deformities

Oral blisters, dental abnormalities

Scarring alopecia, corneal erosions

Esophageal strictures

Osteopenia, Anemia, Growth Failure

Dilated Cardiomyopathy

Renal Failure, Agressive SCC

SCC is leading cause od death (50% by age 35)

Renal Failure (12% mortality)

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39
Q

Recessive Dystrophic Epidermolysis Bullosa, Generalized Intermediate

Gene, Inheritance?

Age of Onset?

Cutaneous Manifestations?

Systemic Manifestations?

A

Also called, Non-Hallopeau-Siemens

Col 7, AR

Birth

Generalize blisters-Heal with milia and scarring-> Can also have pseudosyndactyly

Can improve slightly with age

Systemic features include: rare cardiomyopathy, esophageal strictures, tracheolaryngeal stenosis, malnutrition failure to thrive.

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40
Q

Diagnosis?

Gene/Inheritance?

Age of Onset?

Cutaneous Features?

Systemic Involvement

A

Kindler Syndrome

FERMT1 (previously kindlin), AR

Duplication of the lamina dense on EM

Neonatal, improves over time

Poikiloderma, Acral blisters

Photosensitivity

Eczematous dermatitis, webbing of digits

Palmoplantar hyperkeratosis, Nail dystrophy, SCC of the oral mucosa

Normal lifespan

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41
Q

Disease?

Gene? Inheritance?

Cutaneous Manifestations?

Systemic Manifestations?

A

Basal Cell Nevus Syndrome (Gorlin)

PTCH, AD

PTCH inhibits SMO (which stimulates cell proliferation through GLI1/2)

Multiple BCCs appear around puberty-> appear clinically more like nevi, SK, milia, acrochordons

Major Criteria:

1) > 2 BCC or 1 before 20 years of age
2) Palmoplantar pits (>3)
3) Odontogenic Cysts of the Jaw w/ histo ( at around age 10)
4) Calcification of the Flax Ceribri
5) Medulloblastoma (presents within the first 3 years of life)
6) First degree relative

Minor:

1) Bifib ribs
2) Cleft lip/palate
3) Skeletal: pectus excavatum, polydactyly
4) Macrocephaly (frontal bossing, hypertelorism)
5) Ovarian/Cardiac Fibroma
6) Lymphomesenteric cysts
7) Ocular abnormalities (cataract, coloboma, glaucoma)

Risk for Other Malignancy: Fibrosarcoma, Rhabdomyosarcoma

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42
Q

Diagnosis?

Gene? Inheritance?

Cutaneous Features?

Systemic Involvement

A

Birt Hogg Dube

BHD gene, encodes folliculin (AD)

Fibrofolliculoma, trichodiscoma, acrochordons

Renal Cell Carcinoma, Spontaneous Pneumothorax (Bullous Emphysema)

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43
Q

Diagnosis?

Gene? Inheritance?

Skin Findings?

Sytemic Involvement?

A

Brooke-Spiegler

CYLD, AD

deubiquinating enzyme for NEMO (which stimulates the NFKB pathway)

Trichoepitheliomas, cylindromas, spiradenomas, basal cell carciomas*

Salivary and Parotid Neoplasms*

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44
Q

Wermer Syndrome

Other Name?

Gene, Inheritance

Cutaneous Findings?

Systemic Involvement?

A

MEN 1

MEN1 (menin), AD

CALMS, angiofibromas, collagenomas, gingival papules (similar to tuberous sclerosis)

Pituitary, Parathyroid, Pancreas (Islet Cell, Gastrinoma, Glucagonoma, Insulinoma)

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45
Q

Diagnosis/Associated Syndrome?

Other Name?

Gene, Inheritance?

Cutaneous Manifestations?

Systemic Manifestations?

A

MEN IIa

Sipple Syndrome

RET, AD

macular and lichen amyloidosis

Medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism (2P)

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46
Q

Diagnosis?

Other Name?

Gene? Inheritance?

Cutaneous Manifestations?

Systemic Involvement

A

MEN 2B

Multiple Mucosal Neuroma Syndrome

RET, AD

mucosal neuromas, conjunctival neuromas, marfanoid habitus, thick lips

Medullary thyroid carcioma, pheochromocytoma, diffuse gangioneuromatosis

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47
Q

Diagnosis?

Gene? Inheritance?

Cutaneous Manifestations?

Systemic Involvement?

A

Cowden Syndrome

PTEN, AD

tricholemmomas, sclerotic fibromas, puncatate palmoplantar keratoses, acral keratoses, inverted follicular keratoses, lipomas

Oral cobblestone appearance

Thyroid: goiter, follicular carcinoma

Breast: fibrocystic disease, adeno (most common Ca)

GI: hamartomatous polyps

GU: uterine leiomyomas, endometrial carcinoma

Bone: craniomegaly, bone cysts

Lhermitte-Duclos: (dysplastic gangiocytoma of the cerebellum)-> ataxia, seizures, increased ICP

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48
Q

Disease?

Gene, Inheritance?

Cutaneous Findings?

Systemic Involvement?

A

Gardner Syndrome, Familial Colorectal Polyposis

APC (adenomatous polyposis coli)-> tumor suppressor that regulates B-catenin

Skin: Supernumerary teeth (photo), Epidermoid Cysts w/ pilomatrical changes, fibromas, lipomas

GI: premalignant polyposis (prophylactic colectomy at 20-30), desmoid tumors

Ocular: congenital hypertrophy of the retinal pigment epithelium (CHRPE, 70%)

Bone: osteomas (80%), odontomas

Adrenal adenomas

Other Cancer: papillary thryoid carcinoma, hepatoblastoma, sarcomas, pancreatic carcinomas

Turcot: Glioblastoma and medulloblastomas

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49
Q

PHACE (what does it stand for?)

A

Infantile Hemangioma

Cerebrovascular anomalies are most common

Posterior Fossa

Hemangioma

Arterial

Cardiac/Coarct

Eye

Sternal Cleft

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50
Q

LUMBAR (meaning)

A

Lower Body Hemangioma

Urogenital

Myelomeningocele

Bony

Anorectal

Renal

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51
Q

Neonatal Hemangiomatosis

Number cut off

A

> 5 hemangiomas

Benign (small, limited to skin)

Diffuse (liver, brain, eyes, etc)

Screen: LFTs

Complications: High Output Heart Failure

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52
Q

Kasaback-Merrit

A

Consuptive Coagulopathy

Tufted and KHE

low plts, elevated D-dimer, low fibrinogen

Complications: High Output Heart Failure

Treatment: corticosteroids, vincristine, sirolimus

NOT propranolol

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53
Q

Mutation in Capillary Malformations

A

GNAQ

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54
Q

Encephalotrigeminal Angiomatosis

A

Sturge-Weber

V1 and V2> V3

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55
Q

Phakomatosis Pigmentokeratotica

A

Nevus Spilus + Nevus sebaceous

HRAS mutation

Hypophosphatemic rickets

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56
Q

Klippel-Trenaunay Syndrome

A

PIK3CA

Capillary Malformation

Venous or Lymphatic

Usually Lower Extremity

Limb Overgrowth

Chronic Intravascular Coagulopathy

High Output Heart Failure

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57
Q

Proteus Syndrome

A

AKT1

Overgrowth Syndrome (does not co-localize with CM)

CM/VM/LM

CALM

Epidermal Nevi

Connective tissue nevi

Neoplasms:

Ovarian Cystadenoma

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58
Q

Beckwith-Wiedemann

A

Gigantism

Facial CM

Macroglosia

Visceromegaly

Wilms tumor (nephroblastoma)

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59
Q

Venous Malformations

Mutation?

A

VMCM (TIE2), same with sporadic VM

red to purple soft nodule or plaque

slow flow

phleboliths

may have elevated d-dimer, low fibrinogen

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60
Q

Enchondromas with multiple angiomas

A

Maffucci

IDH1/IDH2 mutations, previously PTHR1

venous malformations of hands and feet

enchondromas (50% risk of chrondrosarcoma)

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61
Q

Glomulovenous Malformations

A

AD

GLMN

Infancy or childhood with multiple compressible nodules

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62
Q

Blue Rubber Bleb Nevus

A

Usually sporadic

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63
Q

Microcystic Lymphatic Malformations

Stains

A

D2-40 (podoplanin) and LYVE-1 stains endothelial cells

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64
Q

Macrocystic Lymphatic Malformation

Association

A

Cystic Hygroma

Turner, Down, Noonan

Lymphatic malformations have increased risk of infection

Also stain with D2-40 and LYVE

Complications: Airway obstruction or pneumonia

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65
Q

Nonne-Milroy Syndrome

A

Congenital Lymphedema

AD

FLT4 gene (VEGFR3)

Presents at birth with bilateral lymphedema

Can have hydrocoele

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66
Q

Lymphedema-Distichiasis Syndrome

A

AD

FOXC2

Pre-pubertal onset

Distichiasis= extra set of eyelashes

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67
Q

Parkes-Weber

A

May be subset of CM-AVM syndrome (same mutation in ~ 50%)

RASA-1 Mutation

AVM is stimulated to grow by puberty, pregnancy, trauma

High output heart failure

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68
Q

AVM Location

A

Most commonly cephalic (70%)

40% at birth others later become visible

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69
Q

Cobb Syndrome

A

cutaneomeningospinal angiomatosis

Spinal hemangioma or AVM

Overlying capillary malformation

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70
Q

CMTC

natural history

A

present at birth

fades over first 2-3 years

Associated with limb hyper or hypoplasia, neurological abnormalities, optho

Adams-Oliver Syndrome (SCAP aplasia cutis, CM, transverse limb deformities)

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71
Q

Angiokeratoma Corporis Diffusum

Associations

A

Fabrys, X-linked recessive (a–gluosidase)

GM1 gangliosidosis (AR), fucosidosis (AR), etc

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72
Q

Fabry’s disease

A

X-linked recessive

a-glucosidase deficiency

Deposition of glycosphingolipids in blood vessels, nerves, smooth muscle, eyes)

Whorl-like corneal opacities/posterior cataracts

Neuro (paresthesias, cardiac arrhythmias, etc)

Strokes

Renal Failure (maltese crosses)

Angiokeratoma corporis diffusum (puberty)

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73
Q

Diagnosis

A

Unilateral Nevoid Telangiectasia

Acquired Idiopathic

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74
Q

Diagnosis

A

Angioma Serpiginosum

Common in females (90%)

Common on lower extremities

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75
Q

Diagnosis

A

Generalized Essential Telangiectasia

Begins on legs then spreads proximally

Does not involve face

More common in females

Can be associated with paresthesias

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76
Q

Diagnosis

A

AD

TELAB1

Begins at 2-12 years of age

telangiestasias with surrounding pallor on face, arms, upper trunk

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77
Q

Diagnosis

A

Hereditary Hemorrhagic Telangiectasia

AD

HHT1 (endoglin), HHT2 (ALK1)

Epistaxis, Anemia

AVMs: pulm (HHT-1), cerebral, hepatic (HHT-2)

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78
Q

Diagnosis

A

Ataxia Telangiectasia

ATM gene (Autosomal Recessive)

regulates cell cycle, cellular response to DNA damage

INCREASED DAMAGE WITH IONIZING RADIATION

bulbar/conjunctival telangiectasias starting at 3-5 years

Truncal taxia first presenting sign

Non-infectious Granulomas

Immunodeficiency (increased IgM all others decreased)

Increased risk of leukemia, lymphoma, breast Ca

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79
Q

ATM Carriers association

A

Ataxia Telangiectasia gene

Breast cancer in femal carriers

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80
Q

Jadassohn-Lewandowski

A

Pachyonychia congenita Type I

Keratin 6a and 16

benign oral leukoplakia

follicular hyperkeratosis

All have local keratodermal, plantar pain, and onychodystrophy

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81
Q

Jackson-Lawler

A

Pachyonychia congenita, Type II

keratin 6b and 17

natal teeth and steatocystomas

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82
Q

Christ-Siemens-Touraine syndrome

A

Hypohidrotic ectodermal dysplasia

XLR (ED1) ectodysplasin

decreased sweating, hypotrichosis, abnormal dentition

frontal bossing, large nostrils

peg-shaped, conical, or missing teeth

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83
Q

Clouston

A

Hydrotic Ectodermal dysplasia

AD (GJB6/connexin 30)

Onychodystrophy, thin hair, palmoplantar keratoderma

Normal sweating, normal dentition

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84
Q

Hay=Wells

A

Anyloblepharon-ectodermal dysplasia-clefting syndrome

Erosive scalp dermatitis

colloidion membrane baby

congenital fusion of eyelids

mutation p63 (transcription factor for ectodermal development)

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85
Q

Rapp-Hodgkin

A

p63 associated

clefting

small narrow nails

conical teeth

86
Q
A

Ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome

Lobster claw

hearing loss

PPK

GU abnormalities

p63 mutation, AD

87
Q
A

Rubinstein-Taybi

sporadic, CREBBP

racquet nails (brachyonychia)

CM

heart defects

multiple pilomatricomas

88
Q

Child sheds all hair after brith, and hair never grows back. As a teen they develop milia-like papules.

A

Atrichia with papules

Hairless gene mutation

May be associated with vitamin D resistant rickets

89
Q

Diagnosis

A

Pili triangulati et canaliculi

Uncombable hair syndrome

Begins in infancy

Can be associated with oncychodystrophy and ectodermal dysplasias

90
Q

Diagnosis?

Mutation?

A

Monilethrix

KRT 81,83,86 (AD)

DSG4 (AR)

Normal hair at birth, becomes short and brittle during infancy

associated with koilonychia, keratosis pilaris

91
Q

Name of finding

Associated conditions

A

Pili Torti

Menkes kinky hair

Bazex-Dupre-Christol

Rombo

Bjornstad

Crandall

92
Q

Name of Finding?

Associated Syndromes?

A

Trichorhexis nodosa

Most common hair shaft anomaly

Mostly acquired, but also AD form

Netherton

Trichothiodystrophy

Arginocuccinic aciduria

Citrullinemia

Oculo-dental-ditial dysplasia

93
Q

Name of Finding?

Association?

A

Trichorhexis Invaginata

Netherton Syndrome (spink 5, AR)

94
Q

Condition?

Children vs Adults

A

Alopecia Mucinosa (Follicular Mucinosis)

In children rarely associated with CTCL

95
Q

Disease?

Inheritance?

Association?

Treatment?

A

Loose Anagen Syndrome

sporadic, but can be AD

Fair, fine, limp, diffusely thinned hair

Noonan-like syndrome (SHOC2)

Improves with time

96
Q

Diagnosis

A

Nevoid Hypertrichosis

Localized patches to terminal hair growth, different from other hair

Rare association with neurodevelopmental abnormalities

97
Q

Keratosis Pilaris

Associations

A

Trisomy 21

Atopy, xerosis, ichthyosis vulgaris

ectodermal dysplasias?

98
Q

Diagnosis

Association

A

keratosis pilaris atrophicans, atrophoderma vermiculatums subtype

Rombo syndrome

Trisomy 21

99
Q

Diagnosis?

Associations?

A

Keratosis Pilaris atrophicans, ulerythema ophyrogenes subtype

sporadic, AD

Cardio-facio-cutaneous sydrome

Noonan syndrome

Cornelia de Lange syndrome

Rubenstein-Tybi syndrome

100
Q

Keratosis Follciularis Spinulosa Decalvans Subtype

A

XLR (SSAT)

progressive scarring alopecia

extensive keratosis pilaris

101
Q

Diagnosis?

Associations?

A

Eruptive Vellus Hair Cyst

hyperpigmented follicular papules

Hidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia

Pachyonychia congenita

102
Q

Diagnosis?

A

Nutritional Deficiency

103
Q

Acrodermatitis Enteropathica

Mutation?

A

AR when inherited

SLC39A4 (zinc specific transporter ZIP4)

104
Q

Heritable Disease Associated

A

Hartnup disease

AR, SLC6A19

neutral amino acid transporter

low tryptophan -> low nicotinic acid

pellagra-like symptoms

105
Q

Short child with mousy odor to urine

A

phenylketonuria

skin: hypopigmented, eczema, photosensitivity, sclerodermoid changes

mental retardation

Rx: low phenylalanine diet, avoid aspartame

106
Q

Homocystinuria, skin findings

A

Livedo reticularis, leg ulcers

AR, cystathionine beta-synthetase deficiency

Diet with pyridoxine (B6)

107
Q

Baby with orange urine

A

Lesch-Nyhan syndrome

XLR, HGPRT gene

Intellectual impairment

Self-mutilation

Gout

Rx: Allopurinol

108
Q

Prolidase deficiency

A

Progressive lower extremity ulcers

Recalcitrant

Intellectual impairment

Hypertelorism, beaked nose, frontal bossing

109
Q

Alagille syndrome

A

AD, JAG1 (cell fates in early development)

Skin: Tuberous xanthomas

High cholesterol (> 200 mg/dl), TAG (> 500-2000 mg/dl)

congenital intrahepatic biliary hypoplasia

Rx: liver transplant or death (< age 5)

110
Q

XLR mutation in IDS gene

A

Hunter syndrome

Coarse Facies

Hypertrichosis

Pebbled ivory-colored plaques

cardiomyopathy

progressive neurodegeneration

hearing loss

retinal pigmentation

111
Q
A

Alkaptonuria

AR, homogentistic 1,2-dioxygenase (HGO) gene

Blue-gray pigmentation of the ears, sclera

Mitral/Aortic valvulitis

Severe Arthritis

112
Q

Absent and Decreased Lamellar Bodies Occur in These Conditions

A

Harlequin fetus

Flegel’s disease

113
Q

Diagnosis

Mutations, Etc

A

Cutis Laxa

AD (fibulin, elastin): begins in early adulthood

AR (FBLN5): skin + internal organ (hypoplastic lungs, GU)

XLR (ATP7A): Occipital horn syndrome (wedge shapped occipital calcifications

114
Q

Drug Induced cutis laxa/PXE

A

penicillamine

115
Q

ABCC6

A

PXE

AR

**mineralization of elastic tissue**

Ocular: Angiod streaks (Bruch’s membrane rupture), Mottling of retinal pigment

CV: renovascular hypertension, mitral valve prolaspse, MI, stroke

OB: Miscarriage

116
Q

COL1A1

A

Osteogenesis Imperfecta

Types

1) mild, fractures
2) fatal in perinatal
3) progressive (death in 3rd and 4th decade, due to restrictive lung disease (scoliosis))
4) ??, normal life span

Features:

Blue Sclera

Translucent Skin

Brittle Bones, Fractures

Scoliosis

Beaded Ribs

117
Q

Classical Ehlers-Danlos

A

Type I

Type II

Col5A1, Col5A2 (AD)

Hyperextensibility/mobility

Easy Bruising

Molluscoid pseudotumors

+ Gorlin sign (tongue touch nose)

118
Q

Ehlers-Danlos, Type III

A

Hypermobility form

TNXB (AD)

tenascin X

Hypermobility, arthritis

Dislocations and subluxations

119
Q

Ehlers-Danlos Type IV

A

Vascular

COL3A1, AD

blue sclera

extensive bruising

early varicosities

visible veins

rupture of bowel (sigmoid), uterus, or arteries

120
Q

Ehlers-Danlos, Type VI

A

Kyphoscoliotic

lysl hydroxylase (PLOD1); AR

hypermobility

marfanoid

severe scoliosis

EYE (ruptured globe, retinal detachment)

121
Q

EDS, Type VII a,b

A

Arthrochalasic

COL1A1, COL1A2 (AD)

most severe hypermobility

Severe subluxations and dislocations

congenital hip dislocation

mitral valve prolapse

postural orthostatic tachycardia syndrome

122
Q

EDS, Type VIIc

A

Dermatosparaxis

Procollagen N-proteinase (ADAMTS2); AR

sagging, redundant skin

premature rupture of fetal membranes

123
Q

EDS, Type VIII

A

Periodontitis

AD

124
Q

FBN1

A

Marfan syndrome

fibrillin-1, AD

Tall, long extremities

striae

EPS

Skeletal: arachnodactyly

Ocular: ectopia lentis (downward displacement)

CV: dilation of the ascending aorta, mitral valve prolapse

Pulm: spontaneous pneumothroax

125
Q

LEMD3/MAN1

A

Buschke-Ollendorf

AD, LEMD3/MAN1 -> increased TGF-B signaling

dermatofibrosis lenticularis disseminata (collagen type nevus)

osteopoikilosis (spotted bones)

126
Q

ANTXR2/CMG2

A

Infantile systemic hyalinosis (begins within 6 months and death before 2 years) and juvenile hyaline fibromatosis (survival into adulthood)

ANTXR2/CMG2 -> mutation leads to hyalinized fibrous issue

AR

small pearly papules on ears and face

joint contractures

127
Q

ECM1

A

lipoid proteinosis

AR, extracellular matrix protein

Hoarse cry (1st sign)

vesicles and hemorrhagic crusts-> ice pick scars

hyaline deposition-> beaded eyelid papules

woody, thick tongue, inability to protrude

respiratory difficulty

seizures (bean-shaped calcifications in temporal lobes/hippocampus)

Histo: deposits are PAS+, diastase resistant

128
Q

PORCN

A

Focal dermal hypoplasia (Goltz, Goltz-Gorlin)

XLD, lethal in males

Blaschkoid areas of hypoplasia, telangiectasias

yellow, reddish nodular outpouchings

raspberry papillomas (lips and anogenital)

Skeletal: ectrodactyly, osteopathia striata

Optho: colobomas

Dental: hypoplastic or absent teeth; delayed eruption

F: female, xld

O: Osteopathia striata

C: Coloboma

A: Aplasia ectoderm elemens

L: lobster claw

129
Q

fibrillin 2

A

Contengial contractual arachnodactyly

FBN2, AD

marfanoid

congential contractures of large and small joints

crumpled ears

mitral valve prolapse, aortic root dilation

130
Q

LMNA

A

Restrictive dermopathy (tight skin contracture syndrome)

LMNA (lamin-A) or ZMPSTE24 (AR)

polyhydramnios, fetal akinesia

taut translucent skin

restrictive pulmonary disease

death shortly after birth

131
Q

FBN1, but not Marfan

A

Stiff Skin Syndrome

fibrillin-1 (AD)

progressive development of stony-hard skin on thighs, buttocks, lower back

Histology: fascial sclerosis

132
Q

Cytokines involved in autoinflammatory syndromes

A

IFN-a, IFN-y, IL-6, IL-1, TNF-a

133
Q

Adult onset inflammatory syndromes

A

FMF and TRAPs

134
Q

CIAS-1/NLRP3

A

AD mutation in all cryopyrin associated periodic syndromes

1) Familial cold autoinflammatory syndrome: infancy, cold urticaria (short minutes-days)
2) Muckle-Wells syndrome: any age onset, abdominal pain, hearing loss, wide spread urticaria; lasting 1-2 days; secondary AA with significant morbidity
3) NOMID/CINCA: neonatal, wide spread urticaria, dysmorphic facies, arthropathy, blindness, aseptic meningitis; continuous febrile attacks, mortality in childhood if untreated

RX: IL-1 antagonists

135
Q

MEFV

A

Familial Mediterranean fever

MEFV, encodes pyrin/marenostrin (AR)

Any age onset

erysipelas-like rash on legs and feet

attacks last 1-3 days

secondary AA (prevented by colchicine)

RX: colchicine, NSAIDs, IL-1 antagonists, TNF-a

136
Q

TNFRSF1A

A

TRAPS, AD

Any age of onset

painful, migratory, serpiginous plaques

serositis, myalgias

Attacks: 1-6 weeks

Secondary AA

Labs: decreased TNF-a receptor levels

Rx: corticosteroids, TNF-a antagonists

137
Q

MVK

A

Hyper-IgD syndrome (Mevalonate kinase deficiency)

mevalonate kinase, AR

Onset in infancy

polymorphous rashes, arthralgia, abdominal pain

Attacks up to 7 days

Labs: Increased IgD

RX: IL-1 antagonists, TNF-a antagonists

138
Q

PSTPIP1/CD2BP1

A

PAPA (Pyogenic arthritis, pyoderma gangrenosum, acne syndrome)

proline-serine-threonine photphatase interacting protein

AD

Onset in childhood

PG, nodulocystic acne, pyogenic oligoarthritis

afebrile

Rx: TNF-a, IL-1

139
Q

IL1RN

A

Deficiency of the IL-1 receptor antagonist (DIRA)

AR

Onset neonatal

Skin: neutrophilic pustular dermatosis, ichthyosis

sterile osteomyelitis

afebrile

IL-1 antagonists

140
Q

IL36RN

A

Generalized pustular psoriasis/deficiency of the IL-36 receptor antagonist (DITRA)

AR

Onset: infancy, childhood

Skin: generalized pustular psoriasis

Systemic: Multi-organ failure

All psoriasis Rx are used

141
Q

NOD2/CARD15

A

Blau syndrome/early sarcoidosis

nucleotide binding oligomerization domain2/caspase recruitment domain

AD

childhood onset

sarcoidal granulomas, ichthyosiform dermatitis

fever, arthritis, synovitis

RX: steroids, IL-1 antagonists, TNF-a antagonists

142
Q

Most common neurofibromatosis

A

90% NF1

143
Q

von Recklinghausen’s disease

A

NF-1

neurofibromin (AD, 50% sporadic)

tumor suppressor, Ras pathway

Skin: neurofibroma, malignant peripheral nerve sheath tumor (10% risk in plexiform)

Lisch nodules (> 90% by 10 yo)

Spehnoid wing dysplasia (exopthalmos)

Congenital tibial pseudoarthroses

Optic glioma, and other neurotumors

Other: pheochromocytoma, breast cancer, Wilms tumor (nephroblastoma), CML, nevus anemicus,

144
Q

NF1 Criteria

A

>2 of the following:

6 CALM > 0.5 cm (prepuberty), > 1.5 (post)

Intertriginous freckling

plexiform neurofibroma

> 2 lisch nodules

optic nerve glioma

pathogenomic skeletal dysplasia

affected 1st degree relative

145
Q

SCH gene

A

NF2

schwannomin/merlin, AD

tumor suppressor

Symptoms start in 2nd decade

bilateral vestibular schwannomas

subcutaneous neurofibromas (fewer)

Poor prognosis; Multiple CNS tumors cause death

146
Q

hamartin/tuberin

A

Tuberous Sclerosis complex

TSC1/TSC2, AD

tumor suppressor genes, mTOR pathway

adenoma sebaceum

ash-leaf macules (confetti pattern pretibially; first cutaneous finding)

Koenen tumors (periungual fibromas)

Neuro: seizures (#1 cause of death), cortical tubers, paraventricular calcification, giant cell astrocytoma

Renal: angiomyolipomas, RCC; renal failure (#2 cause of death)

Ocular: retinal phakomas

Cardiac: Cardiac Rhabdomyomas (WPW)

Dental: pits in enamal, gingival fibromas

Lung: pulmonary lymphangioleiomyomatosis, pulmonary cysts (pneumothroax)

147
Q

Facial Angiofibroma Treatment

A

Rapamycin (mTOR inhibitor)

148
Q

TSC Criteria

A

Diagnosis: requires mutation or two major criteria or one major and two minor

Major: > 3 angiofibromas, > 3 hypomelanotic macules, > 2 ungual fibromas, shagreen patch (connective tissue nevus), retinal hamartomas, cortical dysplasias, subependymal nodules, giant cell astrocytoma, cardiac rhabdomyoma, lympangioleiomyomatosis, > 2 antiomyolipomas

Minor: > 3 dental enamel pits, > 2 intraoral fibromas, confetti like skin lesions, nonrenal hamartomas, multiple renal cysts, retinal achromic patch

149
Q

First manifestation of TSC

A

hypomelanotic macules

150
Q

Timing for Koenens tumor

A

adolescence

151
Q

NEMO

A

Incontinentia pigmenti

XLD

NEMO usually activates NFKB (which modulates cell proliferation, inflammation); NEMO function is lost in IP

lyonization in females results in blaschkoid pattern

Missense mutation in NEMO: hypohidrotic ectodermal dysplasia with immunodeficiency

Systemic: seizures, developmental delay, dental, ocular, breast

152
Q

Stages of IP

A

1) Vesicular: birth to 1 month; eosinophilic spongiosis + apoptotic keratinocytes
2) Verrucous: up to 2 years; papillomatosis, acanthosis, hyperkeratosis, apoptotic cells-> squamous eddies
3) Hyperpigmented: Up to adolescence; melanophages, pigment incontinence
4) Hypopigmented: may persist into adulthood; epidermal atrophy, loss of pilosebaceous units, eccrine glands, apoptotic cells

153
Q

LMNA

A

Hutchinson-Gilford progeria

Lamin A, AD

abnormal nuclear envelope

Dysmorphic facies: enlarged head, micrognathia, small ears, beaked nose

high pitched voice

Symptoms begin at 6-18 months

sclerodermoid changes

rapid aging

atherosclerosis

Death by age 13 from CV disease

154
Q

RECQL2/WRN

A

Werner syndrome

DNA helicase, AR

starts in 3rd and 4th decade

progressive alopecia

sclerodermatous/atropic acral/facial change

short stature, atherosclerosis

Increased risk of malignancy: fibrosarcoma, osteogenic sarcoma

Die in 50s from CV disease or malignancy

155
Q

Xeroderma Pigmentosum

Gene?

Mechanism?

Most common?

A

XPA->XPG proteins

Genes: DDB1, ERCC3, ERCC2, DDB2, ERCC4, endonuclease (XPA-G), AR

nucleotide excision repair pathway

Most common: XPA and XPC

1000 fold increase in skin malignancy

BCC, SCC, melanoma, and fibrosarcoma

mean age at first is 8 yo

XPB (ERCC3), XPD (ERCC2), XPG: a/w cockayne overlap

XPB, XPD: a/w trichothiodystrophy

Neurodevelopmental complications (20-30% of XP: XPA and XPD)

XPV (post-replication repair pathway,DNA polymerase-n), no neurological complications

156
Q

De Sanctis-Cacchione syndrome

A

XP with severe neurological deficits (ataxia, paralysis, deafness)

157
Q

RECQL3

A

Bloom syndrome (congenital telangiectatic erythema)

BLM/RECQL3, AR

DNA helicase (characteristic chromosomal breakage and rearrangement on instability testing)

growth impairment, bird-like nose

photosensitivity

Low IgM, IgG

Respiratory and GI infections

Malignancy: lymphoma/leukemia, solid tissue tumors

158
Q

RECQL4

A

Rothmund-Thomson (poikiloderma congenitale)

DNA helicase

1st year of life

erythema, blisters on cheeks, poikiloderma

acral keratoses, alopecia, dystrophic nails

Short stature, absence or hypoplasia of thumbs, radius, and ulna

juvenile cataracts

hypogonadism

Malignancy: osteosarcoma (14 yo), NMSC (SCC, 34 yo)

159
Q

ERCC8

ERCC6

A

Cockayne syndrome

transcription coupled nucleotide excision repair,

ERCC6 (CCS-B) > ERCC8 (CS-A) AR

Neuro! progressive CNS deterioration/demyelination Photosensitivity

  • No increased risk of skin cancer*
  • No pigmentary changes*

Short stature, cachectic dwarfism

Eyes: salt and pepper retinopathy

160
Q

ERCC2

ERCC3

GTF2H5

C7Orf11

A

Trichothiodystrophy (Tay/ PIBIDS)

w/ photosensitivity: ERCC2, ERCC3, GTF2H5

w/o photosensitivity: C7Orf11, no ichthyosis

brittle hair and nails (low cysteine)

Photosensitivity (no increased skin cancer)

Ichthyosis

Brittle Hair (Tiger-tail, Trichoschisis, Trichorrhexis nodosa)

Intellectual Impairment

Decreased fertility/hypogonadism

PPK, hypogammaglobinemia

161
Q
A

Hydroa vacciniforme

UVA

EBV

mean age= 8 yo

r/o EBV associated lymphoproliferative disorder

Usually resolves during adolescence

Rx: UVB, hydroxychloroquine, beta-carotene, thalidomide

162
Q

HLA-DR4, DRB1*0407

A

actinic prurigo

native american

onset prior to age 10

actinic chelitis

actinic conjunctivitis: epiphora= eye watering

lip biopsy with lymphoid follicle

decreased MED

Rx: UVB, thalidomide

163
Q
A

Juvenile Plantar Dermatosis

boys>girls

frictional irritant

smooth red plaques

Rx: absorbent socks, corticosteroids

164
Q
A

Juvenile Spring Eruption

Boys, age 5-12

Trigger: UVA, UVB, Visible Light

early spring, variant of PMLE

papules-> vesicles -> crusting

Rx: UVB, sun protection

Usually stops after puberty

165
Q
A

Diaper Dermatitis

9-12 months

glazed appearance, sparing skin folds (irritant)

granuloma gluteale infantum (see photo)

perianal pseudoverrucous papules and nodules

Jacquets erosive dermatitis

Diaper ointments

avoid steroids in granuloma gluteale

166
Q
A

Diaper Candidiasis

beefy red erythema, satellite lesions

167
Q
A

Acropustulosis of Infancy

birth-2 years

recurrent vesicopustules over palms, soles, and distal extremities

Spontaneously resolves by 3 years

168
Q
A

Cutaneous Mastocytosis

c-KIT mutations

KIT= CD117

Urticaria Pigmentosa is most common

More lesions= more likely systemic symptoms

169
Q
A

Diffuse Cutaneous Mastocytosis

infiltrated, red-brown, leathery plaques

increased risk of systemic symptoms and progression to sysemic mastocytosis

Imatinib for systemic mastocytosis with FIP1L1-PDGFRA gene rearrangement

170
Q

Mast Cell Stains

A

typtase, toludine blue, giemsa, CD117 (KIT), Leder

171
Q

Mast Cell Degranulators

A

Alcohol

Anticholinergics

NSAIDs

aspirin

narcotics

polymyxin

systemic anesthetics

172
Q

Chronic Granulomatous Disease Mutation

A

X-linked recessive

CYBB

CYBA

carriers have increased risk of lupus

nitroblue tetrazolium test

173
Q

WHIM mutation

A

CXCR4 (AD)

174
Q

AD Hyper IgE

A

STAT3

175
Q

AR HyperIgE

A

DOCK8

176
Q

omenn syndrome

A

scid (but lad) + severe eczema, alopecia

RAG 1

RAG 2

177
Q

SCID mutation

A

IL2RG (XLR)

ADA (AR)

JAK 3 (AR)

GVHD like skin changes

No palpable lymph nodes

178
Q

Wiskott-Aldrich

A

XLR

WAS

encapsulated bacterial infections

eczematous dermatitis

thromboctyopenia

low IgM

lymphoma

179
Q

IPEX

A

FOXP3

immunodeficiency

Polyendocrinopathy

x-linked

180
Q

Collodion membrane association

A

lamellar ichthyosis

non-bullous congential erythroderma

Others: Sjogren-Larson, Laucher, Hay-Well (AEC), trichothiodystrophy, Netherton, ectodermal dysplasia, neutral lipid storage disease

181
Q

Steroid sulfatase deficiency

A

X-linked recessive ichthyosis

adherent scales

spares flexures

+ lateral neck involvement (vs IV, which does not involve the neck)

corneal opacities

cryptorchidism

testicular cancer

Prolonged labor

182
Q

Lamellar ichthyosis

A

TGM1 (AR)

colloidion membrane

plate like scaling

ABCA12

CYP4F22

CERS3

183
Q

Congenital Ichtyosiform erythroderma

A

ALOXE3 (AR)

ALOX12B

collodion membrane (#1 cause)

erythroderma, white scale

flexures involved

184
Q

Congenital self-healking collodion baby

A

TGM1, ALOX12B, ALOXE3

collodion resolves, no additional problems

185
Q

Epidermolytic Ichthyosis

A

Bullous CIE

KRT 1, 10 (AD)

blistering at birth -> hyperkeratosis in cobblestone pattern

186
Q

Harlequin ichthyosis

A

ABCA12 (AR)

severe thick plates of scale at birth

Often neonatal death

187
Q

Superficial epidermolytic ichthyosis

A

bullos of Siemens

KRT2 (AD)

Similar histology to EI, but only superficial scaling of flexural surfaces in adulthood

188
Q

Ichthyosis hystrix Curth-Macklin

A

KRT1 (AD)

Clinically similar to epidermolytic ichthyosis

189
Q

Ichthyosis en confetti

A

KRT 10

erythroderma/scaling-> confetti like areas of scaling (revertant mosaicism)

joint contractures

190
Q

Netherton

A

SPINK5 encodes LEKT1 (serine protease inhibitor)

191
Q

Sjogren-Larsson

A

FALDH (fatty aldehyde dehydrogenase)

perifoveal white dots

di or tetraplegia

persistent itchy ichthyosis with palmoplantar keratoderma

192
Q

Neutral Lipid Storage Disease

A

ABHD5 (AR)

CIE like phenotype

developmental delay

hepatomegaly

peripheral smear with lipid vacuoles in granulocytes

193
Q

Refsum

A

Ichthyosis + Polyneuropathy

PHYH, PEX7 (AR)

Cerebellar ataxia

cardiomyopathy

retinitis pigmentosa

194
Q

GJB2

A

Connexin 26

KID (Keratitis Ichthyosis Deafness) syndrome

AD

Skin: stippled palmoplantar keratoderma, well-demarcated erythematous plaques

sensorineural hearing impairment

blindness

SCC

Recurrent mucocutaneous infections

195
Q

GJB3/GJB4

A

Connexin 31 and 30.3

AD

Erythrokeratoderma variabilis

Geographic hyperkeratotic plaques

plamoplantar keratoderma

burning/stinging sensation with transient erythematous patches

196
Q

GJB4, LOR

A

Progressive symmetric erythrokeratoderma

197
Q

Acral Peeling Skin Syndrome

A

TGM5, AR

198
Q

CHILD

A

congenital hemidysplasia with ichthyosiform erythroderma and limb defects

NSDHL (3B hydroxysteroid dehydrogenase)

XLD

Ipslilateral skeletal hemidysplasia, organ hypoplasia

Histology looks like veruciform xanthoma

199
Q

Condradi-Hunermann-Happle Syndrome

A

XLD chondrodysplasia punctata

EBP (emopalim binding protein)

Erythroderma with blaskoid scale that resolves and is replaced by follicular atrophoderma

stippled epiphyses

asymmetric skeletal anomalies

200
Q

IFAP

A

Ichthyosis follicularis atrichia photophobia syndrome

MBTPS2

XLR

erythroderma, scaling, and follicular hyperkeratosis

nutmeg grater scale

201
Q

Diffuse Epidermolytic Palmoplantar Keratoderma (EPPK)

A

Previously Vorner

Most common Keratin 1, 9

Can also inclue Unna-Thost (? KRT 1,6c)

AD

Well-demarcted yellow hue

Not transgradiens apart from the Greither variant which is over achilles, elbows, knees (KRT1 in families)

No systemic involvement

202
Q

SLURP-1

A

Mal de Meleda

secreted Ly6/Plaud domain-containing protein (AR)

transgradiens PPK

hyperhidrosis

smelly, superinfected

203
Q

Vohwinkel

Mutilating PPK

A

GJB-2, connexin 26

transgradiens

honeycombed palmar PPK

pseudoainhuma

starfish keratoses

deafness

204
Q

Loricrin Keratoderma

A

LOR, AD

Like Vohwinkel + ichthyosis

Previously classified as Vohwinkel

205
Q

Papillon-Lefevre

A

CTSC (Cathepsin C); AR

Transgradiens PPK with peridontitis

Terrible odor

Prematures loss of teeth

dural calcifications

pseudoainhum of elbows and knees

acral melanoma/SCC

206
Q

Naxos

A

JUP (Plakoglobin); AR

Right ventricular cardiomyopathy

wooly hair

diffuse ppk

non-transgradiens

207
Q

Diffuse PPKs

A

Vorner/Unna-Thost

Mal De Meleda

Vohwinkle

Greither

Papillon-Lefevere

Naxos

208
Q
A

Striate PPK

AD

DSG1, desmoplakin, KRT1, KRT 16, KRT 6c

209
Q

Richner-Hanhart

A

TAT, AR

tyrosinemia type II

focal painful PPK

dendritic keratitis

corneal ulcers

blindness

210
Q

Carvajal

A

DSP, AR> AD

Desmoplakin

striate PPK

wooly hair

Left sided cardiomyopathy

hypodontia

nail dystrophy

211
Q

Howel-Evans

A

Tylosis with Esophageal Cancer

RHBDF2/IRHOM2

AD

Risk of esophageal cancer in 3rd-5th decade

Dermatology Boards (7 decks)

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