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Dermatology > Errors In Metabolism > Flashcards

Errors In Metabolism Flashcards

1
Q

Amyloid components

A

Protein derived
Amyloid p protein
Ground substance

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2
Q

Stains amyloid orange

A

Dylon, pagoda red, RIT scarlet no 5 or no 9

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3
Q

MC amyloid cutaneous manifestation

A

Purpura and ecchymoses

Due to amyloid infiltration of blood vessels, binds factor X, amyloid infiltration of liver results in decreased fibrinogen and factor X

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4
Q

Prognostic indicator of AL amyloidosis

A

Elevated Troponins associated with 6 mo survival

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5
Q

Diseases complicated by AA amyloid

A

HS, stasis ulcers, psoriatic arthritis, dystrophic EB

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6
Q

Primary cutaneous localized amyloid

A

Ker 5

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7
Q

Familial primary localized cutaneous amyloid

A

AD
Cutaneous lesions of macular/lichen amyloid
OSMRbeta gene, required for IL31 signaling
Japan and Brazil common

Amyloidosis cutis dyschromia is type of FPLCA with childhood onset of reticulated hyperpigmentation and hypopigmented spots, UVB sensitivity associated

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8
Q

Dz associated with PCT

A

Hemochromatosis, lupus, DM (15-20%), HIV

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9
Q

PCT

A

Pink/coral fluorescence of urine under woods lamp

Urine uro > copro (vs VP)

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10
Q

VP

A

Urine copro > uro (vs pct)

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11
Q

Hereditary coproporphyria

A

Increased fecal coproporphryn III

Urine copro, ALA and porphobilinogen incr only during attacks

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12
Q

EPP

A

Presents 3 mo to 2 yrs
Protoporphoryn IX absorbs in soret band and 500-600nm - visible light may cause sx

Rare EPP associated with myelodysplasia in adults

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13
Q

AIP triggers

A

Progesterone, AEDs, griseofulvin, rifampin, sulfonamides, crash diet, smoking, infection, triggers

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14
Q

10% of AIP pts die of

A

Hepatoma without cirrhosis

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15
Q

Transient erythroporphyria of infancy

A

Exposed to 380-700 NK blue light

Elevated serum copro and proto

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16
Q

Dystrophic calcinosis cutis seen in

A

Crest, SLE, pct, Werner

17
Q

Predisposed to calcinosis cutis in adult DM

A

TNF alpha 308 allele

18
Q

Iatrogenic calcinosis cutis

A

Reported after eeg, IFN injections in abdomen

19
Q

Subepidermal calcified nodule

A

Type of idiopathic calcinosis
Common in kids on face or scalp
Fixed, look like molluscum
Common in downs

20
Q

Hyperphosphatemic familial tumoral calcinosis

A

FGF 23, GALNT3
Normal ca, elevated P and calcitriol
Periarticular calcifications

21
Q

Tuberous xanthomas

A

Primary biliary cirrhosis, myxedema, phytosterolemia, normocholesterolemic dysbetalipoproteinemia

22
Q

Tendinous xanthoma

A

Obstructive liver disease, diabetes, myxedema, phytosterolemia

23
Q

Eruptive xanthomas

A

Diabetes, chronic renal failure, hypothyroidism, estrogens, retinoids, corticosteroids

May koebnerize

24
Q

Plane xanthomas

A

PBC and myeloma

25
Q

Xanthelasma

A

Linked to Abn Apo E

26
Q

PCSK9 deficiency

A

Hypercholesterolemia

Tendon xanthomas

27
Q

LDLRAP1 deficiency

A

AR hypercholesterolemia

Tuberous

28
Q

Generalized plane xanthoma of eyelid, neck, shoulders, upper back

A

Myeloma, waldenstroms, cryoglobulinemia, lymphoma, hemochromatosis

29
Q

Secondary hyperlipoproteinemia

A

Obstructive liver disease - incr phospholipid and cholesterol, type II pattern

Diabetes- insulin is necessary TG clearing action of LPL

CRF- incr lipoproteins

Myxedema - thyroid hormone necessary for LPL

Pancreatitis- insulin deficiency

30
Q

Eruptive xanthomas

A

Retinoids, indomethacin, protease inh, olanzapine

31
Q

Cerebrotendinous xanthomatosis

A

AR, CYP27A gene
Incomplete oxidation of bile acids leading to cholestanol accumulation in tendons, brain, heart, lung, lens
Achilles’ tendon xanthomas, macroglossia,cataracts, progressive neurologic dysfunction
Treat with chenodeoxycholic acid

32
Q

Phytosterolemia

A

AR, Genes for ABCG5 and 8 transporters
All types of xanthomas
Treat- ezetimibe (inh nieman pick C1 like 1)

33
Q

Verruciform xanthoma

A

CHILD, RDEB, lymphedema, GVHD, psoriasis lesions getting PUVA or PSO in HIV
Few with NSDHL gene

34
Q

Familial alpha lipoprotein deficiency (Tangier disease)

A

ABCA1 protein
Yellow enlarged tonsils
No xanthomas

35
Q

Lipoid proteinosis

A

Increased collagen IV and laminin around vessels

36
Q

Fabrys

A

Female carriers may have stigmata of full blown dz
Telangectasias in 25%
MC presentation - neuropathy, loss of A delta fibers

Dermatology (28 decks)

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