Errors In Metabolism Flashcards
Amyloid components
Protein derived
Amyloid p protein
Ground substance
Stains amyloid orange
Dylon, pagoda red, RIT scarlet no 5 or no 9
MC amyloid cutaneous manifestation
Purpura and ecchymoses
Due to amyloid infiltration of blood vessels, binds factor X, amyloid infiltration of liver results in decreased fibrinogen and factor X
Prognostic indicator of AL amyloidosis
Elevated Troponins associated with 6 mo survival
Diseases complicated by AA amyloid
HS, stasis ulcers, psoriatic arthritis, dystrophic EB
Primary cutaneous localized amyloid
Ker 5
Familial primary localized cutaneous amyloid
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
Dz associated with PCT
Hemochromatosis, lupus, DM (15-20%), HIV
PCT
Pink/coral fluorescence of urine under woods lamp
Urine uro > copro (vs VP)
VP
Urine copro > uro (vs pct)
Hereditary coproporphyria
Increased fecal coproporphryn III
Urine copro, ALA and porphobilinogen incr only during attacks
EPP
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
AIP triggers
Progesterone, AEDs, griseofulvin, rifampin, sulfonamides, crash diet, smoking, infection, triggers
10% of AIP pts die of
Hepatoma without cirrhosis
Transient erythroporphyria of infancy
Exposed to 380-700 NK blue light
Elevated serum copro and proto
Dystrophic calcinosis cutis seen in
Crest, SLE, pct, Werner
Predisposed to calcinosis cutis in adult DM
TNF alpha 308 allele
Iatrogenic calcinosis cutis
Reported after eeg, IFN injections in abdomen
Subepidermal calcified nodule
Type of idiopathic calcinosis
Common in kids on face or scalp
Fixed, look like molluscum
Common in downs
Hyperphosphatemic familial tumoral calcinosis
FGF 23, GALNT3
Normal ca, elevated P and calcitriol
Periarticular calcifications
Tuberous xanthomas
Primary biliary cirrhosis, myxedema, phytosterolemia, normocholesterolemic dysbetalipoproteinemia
Tendinous xanthoma
Obstructive liver disease, diabetes, myxedema, phytosterolemia
Eruptive xanthomas
Diabetes, chronic renal failure, hypothyroidism, estrogens, retinoids, corticosteroids
May koebnerize
Plane xanthomas
PBC and myeloma
Xanthelasma
Linked to Abn Apo E
PCSK9 deficiency
Hypercholesterolemia
Tendon xanthomas
LDLRAP1 deficiency
AR hypercholesterolemia
Tuberous
Generalized plane xanthoma of eyelid, neck, shoulders, upper back
Myeloma, waldenstroms, cryoglobulinemia, lymphoma, hemochromatosis
Secondary hyperlipoproteinemia
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
Eruptive xanthomas
Retinoids, indomethacin, protease inh, olanzapine
Cerebrotendinous xanthomatosis
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
Phytosterolemia
AR, Genes for ABCG5 and 8 transporters
All types of xanthomas
Treat- ezetimibe (inh nieman pick C1 like 1)
Verruciform xanthoma
CHILD, RDEB, lymphedema, GVHD, psoriasis lesions getting PUVA or PSO in HIV
Few with NSDHL gene
Familial alpha lipoprotein deficiency (Tangier disease)
ABCA1 protein
Yellow enlarged tonsils
No xanthomas
Lipoid proteinosis
Increased collagen IV and laminin around vessels
Fabrys
Female carriers may have stigmata of full blown dz
Telangectasias in 25%
MC presentation - neuropathy, loss of A delta fibers
