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Peds Derm > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

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Dermatology Board Prep flashcards
1
Q

phenylketonuria

A 
AR
def: phenylalanine hydroxylase
elevated serum phenylalanine
blond, blue eyed vomiting pt w/ musty odor --> seizures
atopic-like derm
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2
Q

homocystinuria

A

AR
def: cystathionine B-synthase –>
increased methionine & homocysteine, decreased cysteine
MR & charlie chaplin gait
ectopia lentis - lens displaced downward (marfans displaced upwards)
malar flush, livedo reticularis - vasculopathy

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3
Q

alkaptonuria (ochronosis)

A

AR
def: homogentisate 1,2-dioxygenase
histopath: yellow/brown pigment in dermis (banana)
brown pigmentation ears, sclera, axilla, eccrine openings, cerumen

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4
Q

trimethylaminuria

A

fish odor syndrome
mutation FMO3 gene
accumulation trimethylamine in sweat & urine

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5
Q

type I hyperlipidemia

A

eruptive, tendinous, xanthelasmas
high TGC, chylomicrons. low LDL, HDL
GI: acute abd, pancreatitis, hepatosplenomegaly

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6
Q

type II hyperlipidemia

A

planar, tendinous, tuberous
generalized atherosclerosis
arcus cornea
high TGC, LD. low HDL

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7
Q

alagille disease

A 
AD
mutation: Jagged 1
hyperlipidemia, xanthomas
congenital intrahepatic biliary hypoplasia
unusual facies
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7
Q

alagille disease

A 
AD
mutation: Jagged 1
hyperlipidemia, xanthomas
congenital intrahepatic biliary hypoplasia
unusual facies
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8
Q

sitosterolemia

A

AR
mutation ABSG5 (encoding sterolin-1) or ABCG8 (encoding sterolin-2)
tuberous & tendinous xanthomas, premature cardiovascular ds

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8
Q

sitosterolemia

A

AR
mutation ABSG5 (encoding sterolin-1) or ABCG8 (encoding sterolin-2)
tuberous & tendinous xanthomas, premature cardiovascular ds

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9
Q

cerebrotendinous xanthomatosis

A

AR
sterol 27-hydroxylase mutation
tendinous xanthomas, MR, cataracts

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9
Q

cerebrotendinous xanthomatosis

A

AR
sterol 27-hydroxylase mutation
tendinous xanthomas, MR, cataracts

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10
Q

tangier disease

A

aka familial HDL deficiency
AR
mutation in ATP-binding cassette (ABC1)
hypocholesterolemia, absent HDL, decreased plasma ApoA-1
tonsil enlargement, lipid deposit in skin

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10
Q

tangier disease

A

aka familial HDL deficiency
AR
mutation in ATP-binding cassette (ABC1)
hypocholesterolemia, absent HDL, decreased plasma ApoA-1
tonsil enlargement, lipid deposit in skin

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11
Q

Hurler Syndrome

A 
mucopolysaccharidosis
AR
defect: alpha-L iduronidase (can't degrade dermatan sulfate and heparan sulfate)
death before 10 yo - cardiac/resp
MR, taught skin, clouding cornea
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12
Q

hunter syndrome

A 
mucopolysaccharidosis
XLR
iduronate-2-sulfatase
no corneal clouding (see to hunt)
firm flesh colored-ivory white papules and nodues of scapula and posterior axillary lines (hunter pulling arrows from quiver)
13
Q

acromegaly presentation

A

cutis verticis gyrata

hypertrichosis & hyperpigmentation

14
Q

cutaneous findings gigantism

A

enlarged hands/feet
coarse facies
puffy eyebrows

15
Q

gonadal dysgenesis cutaneous findings

A

severe nail hypoplasia (pathognomonic)
thin, markedly hyper convex nails (pathognomonic)
cutis verticis gyrata
webbed neck

16
Q

addison’s disease cutaneous findings

A

hyperpigmented longitudinal nail streaks
hyperpigmentation
blue-black gums
assoc w/ vitiligo

17
Q

leprechaunism

A

AR - insulin receptor gene
absent subcu fat
acanthosis nigricans, hypertrichosis, hyperpigmentation
elfin facies, lg genitalia

18
Q

rabson-mendenhall syndrome

A

AR
insulin receptor gene
acanthosis nigricans, coarse facies, gingival hyperplasia

19
Q

Berardinelli-Seip

A

congenital generalized lipodystrophies
AGPAT2 gene, seipin gene
lAN, hyperhidrosis

20
Q

pseudohypoparathyroidism

A

AD
LOF mutation of GNAS1
round face, short stature, brachydactyly (knuckle, knuckle, dimple, dimple)
calcinosis cutis

21
Q

mccune albright syndrome

A

GNAS1 gene mutation

cafe-au-lait coast of Maine

22
Q

Carney complex

A 
AD
PRKARIA gene (park car..ney)
lentigines
pigmentation of conjunctiva
melanotic schwanomas
adrenal, pituitary, testicular, thyroid cancers
23
Q

MEN-1

A

wermer’s ds
AD
parathyroid hyperplasia, pituitary adenomas
cutaneous - ‘waste basket’

24
Q

MEN-2a

A

AD ret proto
sipple syndrome
medullary carcinoma of thyroid, pheo, parathyroid hyperplasia (MPP)
lichen amyloid (a)

25
Q

MEN-2b

A 
medullary carcinoma of thyroid, pheo, neuromas (MPN)
buccal neuromas (b), marfanoid, cafe-au-lait
26
Q

Carney complex

A 
AD
lentigines
pigmentation of conjunctiva
melanotic schwanomas
adrenal, pituitary, testicular, thyroid cancers

Peds Derm (2 decks)

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