Andrews Ch 26

Front 1

South African ancestry patient with features of both PCT and acute intermittent porphyria

Back 1

suspect variegate porphyria

Front 2

___ is deficient in hereditary coproporphyria

Back 2

coproporphyrinogen oxidase

Front 3

rare, AD-inherited porphyria; deficient coproporphyrinogen oxidase; 1/3 are photosensitive (but less sincere); may have GI attacks and neurologic symptoms

Back 3

hereditary coproporphyria

Front 4

___ is "always" elevated in cases of hereditary coproporphyria

Back 4

fecal coproporphyrin III

Front 5

erythropoietic protoporphyria is "always" associated with ___ levels below 35% of normal

Back 5

ferrochelatase

Front 6

this type of porphyria is inherited in AD or AR manner; all affected patients are compound heterozygotes; presents in early childhood; immediate burning of skin on sun exposure; skin develops weather-beaten appearance due to repeated sun exposure; seasonal palmar keratoderma in a small portion of patients

Back 6

EPP (erythropoietic porphyria)

Front 7

this form of EPP (erythropoietic porphyria), this inheritance, is associated with less liver disease but a higher incidence (45%) of palmar keratoderma

Back 7

AR type

Front 8

EPP patients have liver complications due to ___

Back 8

accumulation of porphyrin within hepatocytes

Front 9

EPP usually presents in childhood, but adults with a portion of chromosome ___ deleted may develop disease

Back 9

18 (contains the ferrochelatase gene)

Front 10

what is a key histologic finding in cases of EPP (erythropoietic porphyria)

Back 10

PAS-positive, ground-glass material in the upper dermis in perivascular distribution (DIF may reveal perivascular IgG and C3 as well)

Front 11

___ is the type of protoporphyrin elevated in cases of EPP (erythropoietic porphyria)

Back 11

protoporphyrin IX (it does not show up in the urine because it is not water-soluble)

Front 12

infant cries when exposed to sunlight, maybe even through a window, or visible light in an OR

Back 12

EPP (erythropoietic porphyria)

Front 13

RBC ___ levels are elevated in cases of EPP

Back 13

protoporphyrin

Front 14

deletion in delta-aminolevulinic acid synthetase 2 gene (gain of function) - overproduction of protoporphyrin; symptoms identical to EPP

Back 14

X-linked dominant protoporphyria (15% will have liver disease)

Front 15

homozygous defect in uroporphyrinogen III synthase; presents soon after birth with red urine on diapers and severe photosensitivity

Back 15

congenital erythropoietic porphyria (CEP) / Gunther's disease

Front 16

hypertrichosis of cheeks
erythodontia
exquisite photosensitivity (immediate)
dark red urine

Back 16

CEP (congenital erythropoietic porphyria)

Front 17

___ enzyme is defective in cases of CEP (congenital erythropoietic porphyria)

Back 17

UROS (uroporphyrinogen III synthase)

Front 18

NOTE: A few treatments for CEP: strict sunlight avoidance; splenectomy for hemolytic anemia; oral activated charcoal; repeated RBC transfusion; maybe BMT

Back 18

n

Front 19

___ is the second most common type of porphyria

Back 19

AIP (acute intermittent porphyria)

Front 20

no skin lesions; periodic attacks of abdominal pain; GI disturbance; pain / paresis; seizures; mental symptoms (agitation, allucinations, depression)

Back 20

consider AIP

Front 21

___ is deficient in cases of AIP

Back 21

porphobilinogen deaminase (PBGD)

Front 22

NOTE: AIP usually presents in yound adulthood, is more common in women, and is more common in Scandinavia

Back 22

n

Front 23

Patients with AIP may be at risk for ___ cancer

Back 23

liver

Front 24

NOTE: There are several drugs that can trigger AIP such as anticonvulsants, griseofulvin, rifampin, sulfonamides

Back 24

n

Front 25

during an attack of AIP, ___ will be elevated in the urine and ___ will be elevated in both plasma and urine

Back 25

PBG is elevated in urine
dALA is elevated in urine & plasma

Front 26

___ may be elevated during remissions of AIP

Back 26

urinary porphobilinogen

Front 27

About 10% of patients with AIP will die of ___ (so Andrews recommends yearly screening)

Back 27

hepatoma (get yearly ultrasounds in patients > 50yo)

Front 28

infants with hyperbilirubinemia treated with the blue light (380-700nm) with marked purpura, maybe blistering / erosions

Back 28

consider transient erythroporphyria of infancy(elevated plasma coproporphyrins and protoporphyrins)

Front 29

NOTE: calcinosis cutis is divided into four forms: dystrophic calcinosis, metastatic calcification, iatrogenic or traumatic, idiopathic

Back 29

n

Front 30

calcification of damaged tissue (collagen or elastin) results in ___

Back 30

dystrophic calcinosis

Front 31

dermatomyositis may cause this type of calcinosis cutis

Back 31

dystrophic (normal serum calcium and phosphorous levels; calcification of damaged tissue)

Front 32

hyper-PTH causes this type of calcinosis cutis

Back 32

metastatic

Front 33

true bone formation within skin

Back 33

osteoma cutis

Front 34

what is the subtype of calcinosis cutis found in CREST (limited scleroderma)

Back 34

dystrophic (if it's localized you can call it calcinosis circumscripta; if widespread then calcinosis universalis)

Front 35

NOTE: Dystrophic calcinosis cutis can be found not only in CREST but also in progressive systemic sclerosis and SLE, pancreatic and lupus panniculitis (usually more microscopic)

Back 35

n

Front 36

calcinosis universalis is seen in a large percentage of children with ___ disease

Back 36

dermatomyositis

Front 37

List 3 diseases associated with calcinosis universalis

Back 37

- dermatomyositis
- PXE
- NSF
- Hutchinson-Gilford progeria

Front 38

The most common metabolic condition associated with metastatic calcinosis cutis is ___

Back 38

renal failure

Front 39

NOTE: With renal failure-induced metastatic calcinosis cutis, there is usually associated hyperphosphatemia, secondary hyper PTH

Back 39

n

Front 40

List 3 forms of cutaneous calcification associated with CKD

Back 40

- tumoral calcinosis
- calcifying panniculitis
- calciphylaxis

Front 41

the most common form of idiopathic calcinosis cutis is ___

Back 41

idiopathic scrotal calcinosis

Front 42

on a young to middle-aged man's scrotum, multiple, asymptomatic, firm, round, yellow papules up to 1cm in diameter

Back 42

consider idiopathic scrotal calcinosis

Front 43

NOTE: Some of the papules of idiopathic scrotal calcinosis may be calcified scrotal infundibular cysts

Back 43

n (surgical excision is curative)