ABD Genodermatoses and Nevi 2

Question 1

Neurofibromatosis type 1 is caused by a mutation in which gene?

Accepted Answer

NF1 (neurofibromin)

Answer

NF2 (merlin)

Answer

TSC1 (hamartin)

Answer

PTEN

Question 2

Which diagnostic criterion requires at least six lesions greater than 5 mm (prepubertal) in neurofibromatosis type 1?

Accepted Answer

Café-au-lait macules

Answer

Lisch nodules

Answer

Optic gliomas

Answer

Axillary freckling

Question 3

Ash-leaf macules (hypopigmented spots best seen with Wood lamp) are an early sign of which genodermatosis?

Accepted Answer

Tuberous sclerosis complex

Answer

Neurofibromatosis type 1

Answer

Incontinentia pigmenti

Answer

Xeroderma pigmentosum

Question 4

The facial angiofibromas of tuberous sclerosis were historically misnamed as what?

Accepted Answer

Adenoma sebaceum

Answer

Acne rosacea

Answer

Trichoepitheliomas

Answer

Syringomas

Question 5

A collagenous connective tissue nevus presenting as a leathery plaque over the lumbosacral area in tuberous sclerosis is called a:

Accepted Answer

Shagreen patch

Answer

Peau d'orange

Answer

Café-au-lait macule

Answer

Nevus anemicus

Question 6

Periungual fibromas (Koenen tumors) around the nails are a diagnostic feature of which condition?

Accepted Answer

Tuberous sclerosis complex

Answer

Neurofibromatosis type 2

Answer

Gardner syndrome

Answer

Cowden syndrome

Question 7

Bilateral vestibular schwannomas are the hallmark of which neurocutaneous disorder?

Accepted Answer

Neurofibromatosis type 2

Answer

Neurofibromatosis type 1

Answer

Sturge-Weber syndrome

Answer

von Hippel-Lindau disease