Genetic Disorders with Cutaneous and Renal Involvement

Question 1

Autosomal dominant neurocutaneous disorder classified by seizures, mental retardation, and characteristic skin findings

Answer 1

Tuberous Sclerosis (Bourneville’s Disease)

Question 2

Bourneville’s Disease

Due to mutations in the

Answer 2

TSC1 and TSC2 genes, which
code for the tumor suppressor proteins hamartin
(TSC1) and tuberin (TSC2)

Question 3

renal angiomyolipomas, polycystic renal disease and rarely renal cell carcinoma

Answer 3

Bourneville’s Disease

Question 4

associated with TSC2

Answer 4

polycystic renal disease

Question 5

Bourneville’s Disease earliest

cutaneous finding.

Answer 5

Hypopigmented macules

Question 6

facial angiofibromas
(adenoma sebaceum), collagenomas
(shagreen patch), periungual fibromas
(Koenen’s tumors), forehead plaques,
gingival fibromas, and dental pitting

Answer 6

Tuberous Sclerosis

Question 7

X-linked recessive condition due to a deficiency of alpha-galactosidase-A.

Answer 7

Fabry’s Disease

Question 8

Absence of this enzyme –>accumulation of glycosphingolipids (globotriaosylceramide,
galabiosylcermide) within the vascular endothelium

Answer 8

alpha-galactosidase-A.

Question 9

hypohidrosis, and angiokeratoma corporis diffusum in

a bathing trunk distribution.

Answer 9

Fabry’s Disease

Question 10

whorl-like corneal/lenticular

opacities, acral paresthesias, myocardial infarctions and cerebrovascular disease

Answer 10

Extracutaneous findings Fabry’s Disease

Question 11

Fabry’s Disease Diagnosis is confirmed

Answer 11

decreased levels of alpha-galactosidase in white blood cells, serum, fibroblasts, and amniotic fluid.

Question 12

Treatment Fabry’s Disease with

Answer 12

enzyme replaceme

Question 13

accumulation of ceramide trihexoside

Fabry’s Disease causes

Answer 13

renal failure

Question 14

Patients with __ can develop proteinuria

Answer 14

Fabry’s Disease

Question 15

BHD gene that encodes the tumor suppressor protein,The function of this protein is unknown

Answer 15

folliculin

Question 16

Triad of trichodiscomas, fibrofolliculomas and acrochordons

pulmonary cysts and pneumothorax

Answer 16

Birt-Hogg-Dube Syndrome (BHDS)

Question 17

BHDS and bilateral renal tumors, co-segregate in ___fashion.

Answer 17

autosomal dominant

Question 18

renal tumors Histology

Answer 18

oncocytomas, chromophobe adenomas and papillary renal cell carcinoma

Question 19

Birt-Hogg-Dube Syndrome (BHDS)

Periodic surveillance of patients and their relatives for

Answer 19

renal cell carcinoma

Question 20

Nail-Patella Syndrome

Answer 20

• Autosomal dominant

Question 21

defect has been identified in the LMX1B gene which encodes a transcription factor involved in collagen synthesis

Answer 21

Nail-Patella Syndrome

Question 22

hyperpigmentation of the papillary margin of the iris (Lester iris)

Answer 22

Nail-Patella Syndrome

Question 23

Renal involvement includes: glomerulonephritis, hemolytic uremic syndrome and rarely,
renal failure

Answer 23

Nail-Patella Syndrome

Question 24

dystrophic nails triangular lunulae,

hypoplastic or absent patellae,dislocation of the radial head, and posterior iliac horns

Answer 24

Nail-Patella Syndrome

Question 25

Nail-Patella Syndrome

dystrophic nails most commonly involved

Answer 25

thumb nail

Question 26

Pseudoxanthoma Elasticum (PXE)
• Autosomal

Answer 26

recessive

Question 27

(PXE) clinical manifestations caussed by

Answer 27

Fragmentation and calcification of elastic fibers in the skin, Bruch’s membrane of the eye (angioid streaks) and vasculature

Question 28

(PXE) with involvement of renal

vasculature

Answer 28

Hypertension

Question 29

claudication, loss of peripheral pulses and angina

Answer 29

(PXE)

Question 30

PXE Yellow papules and plaques in the flexural areas give the appearance of

Answer 30

“plucked chicken

skin.”

Question 31

Histopathology: fragmented elastic fibers in the mid and deep reticular dermis

Answer 31

(PXE)

Question 32

Inactivating mutation ABCC6 gene cause which encodes the MRP6 protein

Answer 32

(PXE)

Question 33

MRP6 protein (functions as efflux pump) expressed in

Answer 33

hepatocytes and renal cells