Errors In Metabolism

Question 1

Amyloid components

Answer 1

Protein derived
Amyloid p protein
Ground substance

Question 2

Stains amyloid orange

Answer 2

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

Question 3

MC amyloid cutaneous manifestation

Answer 3

Purpura and ecchymoses

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

Question 4

Prognostic indicator of AL amyloidosis

Answer 4

Elevated Troponins associated with 6 mo survival

Question 5

Diseases complicated by AA amyloid

Answer 5

HS, stasis ulcers, psoriatic arthritis, dystrophic EB

Question 6

Primary cutaneous localized amyloid

Answer 6

Ker 5

Question 7

Familial primary localized cutaneous amyloid

Answer 7

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

Question 8

Dz associated with PCT

Answer 8

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

Question 9

PCT

Answer 9

Pink/coral fluorescence of urine under woods lamp

Urine uro > copro (vs VP)

Question 10

VP

Answer 10

Urine copro > uro (vs pct)

Question 11

Hereditary coproporphyria

Answer 11

Increased fecal coproporphryn III

Urine copro, ALA and porphobilinogen incr only during attacks

Question 12

EPP

Answer 12

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

Question 13

AIP triggers

Answer 13

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

Question 14

10% of AIP pts die of

Answer 14

Hepatoma without cirrhosis

Question 15

Transient erythroporphyria of infancy

Answer 15

Exposed to 380-700 NK blue light

Elevated serum copro and proto

Question 16

Dystrophic calcinosis cutis seen in

Answer 16

Crest, SLE, pct, Werner

Question 17

Predisposed to calcinosis cutis in adult DM

Answer 17

TNF alpha 308 allele

Question 18

Iatrogenic calcinosis cutis

Answer 18

Reported after eeg, IFN injections in abdomen

Question 19

Subepidermal calcified nodule

Answer 19

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

Question 20

Hyperphosphatemic familial tumoral calcinosis

Answer 20

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

Question 21

Tuberous xanthomas

Answer 21

Primary biliary cirrhosis, myxedema, phytosterolemia, normocholesterolemic dysbetalipoproteinemia

Question 22

Tendinous xanthoma

Answer 22

Obstructive liver disease, diabetes, myxedema, phytosterolemia

Question 23

Eruptive xanthomas

Answer 23

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

May koebnerize

Question 24

Plane xanthomas

Answer 24

PBC and myeloma

Question 25

Xanthelasma

Answer 25

Linked to Abn Apo E

Question 26

PCSK9 deficiency

Answer 26

Hypercholesterolemia | Tendon xanthomas

Question 27

LDLRAP1 deficiency

Answer 27

AR hypercholesterolemia | Tuberous

Question 28

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

Answer 28

Myeloma, waldenstroms, cryoglobulinemia, lymphoma, hemochromatosis

Question 29

Secondary hyperlipoproteinemia

Answer 29

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

Question 30

Eruptive xanthomas

Answer 30

Retinoids, indomethacin, protease inh, olanzapine

Question 31

Cerebrotendinous xanthomatosis

Answer 31

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

Question 32

Phytosterolemia

Answer 32

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

Question 33

Verruciform xanthoma

Answer 33

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

Question 34

Familial alpha lipoprotein deficiency (Tangier disease)

Answer 34

ABCA1 protein Yellow enlarged tonsils No xanthomas

Question 35

Lipoid proteinosis

Answer 35

Increased collagen IV and laminin around vessels

Question 36

Fabrys

Answer 36

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