Chapter 140 Tuberous Sclerosis Complex

Question 1

is caused by mutations in a tumor suppressor gene.

Answer 1

TSC

Question 2

The 8.6-kb full-length transcript encodes a protein called

Answer 2

hamartin or TSC1

Question 3

The 5.5-kb transcript encodes a protein called

Answer 3

tuberin or TSC2

Question 4

Irregular soft to firm, connective tissue nevus with the color of the normal surrounding skin, red, or hyper pigmented in darkly pigmented individuals

Answer 4

Forehead plaque

Question 5

Surface may appear bumpy with coalescing papules and nodules, or have suface appearance of an orange peel

Answer 5

Shagreen patch

Question 6

More common on the toes than on the fingers; 1mm to 1cm in diameter; arise from under the proximal nail fold and under the nail plate.

Answer 6

Ungual fibromas/Koenen’s tumors

Question 7

Soft pedunculated papules to larger firm pedunculated nodules located on the neck, axillae, trunk, and flexures;

Answer 7

Milluscum fibrosum pendulum or multiple fibroephithelial polyps in TSC

Question 8

Can be tine pinpoint lesion or larger crater-like lesions; occur on both deciduous and permanent teeth

Answer 8

Multiple pits of the dental enamel