Genoderms Flashcards by Arden Edwards

Griscelli

Myosin 5A, RAB27A, MLPH
GS1-pancyopen, immunodef, neuro
GS2-accel phase without granules on smear

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Chedhak-Higashi

LYST/CH1 (lysosome transport gene)

OCA, ataxia, Giant lysosomal granules, accelerated phase with pancytopenia/death, lymphhistio of reticendo sys

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Elejalde syndrome

Varianct of GS1

Neuro dysftn but no immunodef

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Hermansky-Pudlak

HPS (lysosomal transport)
AP3B1 (endocytic/exocytic sorting)
OCA, plts without bodies, ceroid storage cause pulm fibrosis, granulom colitis, CM, renal failure

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Nieman-Pick

A:infancy, CNS, cherry red spot-blindness
B:infancy/childhood, no cns
c:childhood, psychomotor deterrer, HSM

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Hemochromatosis

AR: HFE, HJV, HAMP, TFR2
AD: ferroprotein
vibrio, yersinia

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Wilson

ATP7B

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Acrodermatitis enteropathica

SLC39A4

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Homocystinuria

cystathione B-synthase

increased homocyst and methionine levels in blood/urine, malar flush, DVTs, glaucoma

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Phenylketonuria

phenylalanine hydroxylase or tetrahydrobiopterin

sclerodermoid changes, blond, blue

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Multiple carboxylase deficiency

biotinidase def or holocarboxylase synthetase def.

periorificail and generalized dermatitis, hypotonia, optic atrophy, hyperammonia

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Hurler and Scheie

alpha-L-iduronidase

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Hunter

XLR; iduronate sulfate

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Sanfilippo

Multiple enzymes

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Maroteaux-Lamy

Arylsulfatase B

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Morquio

hexosamine 6-sulfatase or b-galactosidase

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Gaucher

acid beta-glucosidase gene
Ehrlenmeyer flask deform of bones
1-adult, 2-infants
glucocerbroside in histiocytes

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Alkaptonuria

Ochronosis–homogentisic acid oxidase

dark urine and all else

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Riley Day (familial dysautonomia)

IKBKAP
no fungiform papillae
decreased tears

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Noonan

PTPN11
LE lymphedema, CALMS, hypogonad
Like female turner–pulmonic valve stenosis

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Trisomy 8

like nail-patella, no patella, short nail

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Downs

low alphaFP

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Muir Torre

MSH2 and MLH1–dna mismatch repair

GI and larynx carcinomasP

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Werner

RECQL2-chronic leg ulcers, sarcoma

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Rothmund Thompson

RECQL4-premalignant acral keratoses, solid tumors

Bloom

RECQL3-hypogammaglobulinemia, leuk, lymphoma, GI CA and oral/esop SCC

Cockayne

CSA-ERCC8 CSB-ERCC6 , no inc risk of CA

Wiskott-Aldrich

WASP; dec IgM, elevated A/D/E; 20% risk lymphoretic

CGD

CYBA, XLR: CYBB, NCF1 and 2 | nitroblue tetrazolium redcution assay

Hyper IgE/JOB

STAT3, broad nasal bridge

SCID

XLR; ADA deficiciency | IL-2 receptor gene most common, JAK 3, IL7R

Omenn

RAG1 and RAG2

Chronic mucocutaneous candidiasis

thyroid disease

APECED

AIRE

X-linked agammaglobulinemia (britons)

BTK; all Igs decreased

Common variable

TNFRSF13 ,TNFRSF13C, CD19 | IgG and IgA decreased

Selective IgA def

TNFRSF13B

X-linked hyperIgM syndrome

CD40LG | Incr IgM and decreased A/E/G

Li-Fraumeni Syndrome

p53, breast, brain, osteosarc, leak

Reed-

fumarate hydratoase

Familial dysplastic nevi

CDK2NA (p16)

Common melanocytic nevi and malig mel

BRAF

Hoyeraal-Hreidarsson Syndrome

Dysker congen + posterior fossa malformation XR: dyskerin AD: TERC

MEN2b

RET, medullary thyroid, pheo, parathyroid ca

Bannayan Riley Ruvalcaba

PTEN, macroceph, genital lentigenes, hamartomas, lipomas, MR

Cowden

PTEN and Killin | Macroceph, tricholemmomas, acral keratosis, sclerotic fibromas, Breast, Thyroid, GI

Peutz-Jeghers

STK11/LKB1, ovarian sex cord tumor, breast, pancreas, endometrial cancer

Cronkite canada

GI polyposis, nail atrophy melanotic macules on fingers, generalized pigmentation

Gardner

APC, GI cancer, CHRPE, facial osteoma, extranummery teeth, desmoid tumors

Schopf-Schulz-Passarge

hidrocystoma of eyelid, hypotrichosis, hypodontia, nail abn, multiple palm/plantar eccrine syringofibroadenomas

BHD

folliculin | collagenomas, lipomas, oral fibromas, RCC, medulary thyroid CA, colon ca

Nicolau-Balus Syndrome

eruptive syringomas, milia, atrophoderma vermiculata

Brook-Spiegler

cylindroma, trichoepithelioma

Rasmusen syndrome

Milia, trichoepitheliomas, cylindromas

Tuzin

Atrophoderma vermiculata, scrotal tongue

Braun-Falco-Marghescu

Atrophoderma vermiculata, PPK, KP

Rombo

Atrophoderma vermiculata, BCCs, trichoepitheliomas, hypotrich, acrocyan

Bazex

Follicular atroph on backs hands and feet, HYPOHYDROSIS, hypotrichosis, BCCS

Gorlin

Patched gene (dec patch, inc smooth, uncontr prolif). Calcif Falx, meduloblast, ovarian fibromas and fibrosarcomas

Dermatopathia Pigmentosa Reticularis

K14: reticulate hyperpig, nonscar ALOPECIA, onychodystrophy | adermatoglyphia, PPK, hypohidrosis

Naegeli-Franseschetti-Jadassohn

K14: retic pigmentation, better with age. POOR DENTITION adermatoglyphia, PPK, hypohidrosis

Genoderms Flashcards

(61 cards)