Derm Practice Question

A 21 year old male with a history of tuberous sclerosis has numerous nodular lesions on his face. Which of the following is the most likely diagnosis?

Show Answer and Explanations

Facial angiofibroma — Correct answer

Correct. Facial angiofibromas are commonly found on the face in tuberous sclerosis. These are vascular and fibrous lesions, not sebaceous gland tumors. Angiofibromas can also be found in association with Birt-Hogg-Dube syndrome and multiple endocrine neoplasia 1 (MEN1). Tuberous sclerosis is associated with CNS tubers and SEGA, PEComas, cardiac rhabdomyomas and skin tumors (angiofibromas, Shagreen patches - connective tissue nevus, ash-leaf patches and periungual fibromas.)

Fibrofolliculoma

Incorrect. The presence of multiple fibrofolliculomas is associated with Birt-Hogg-Dube: multiple types of renal tumors (hybrid oncocytoma / chromophobe carcinoma is specific), fibrofolliculomas of the skin, pulmonary cysts (increased risk of pneumothorax).

Sebaceous adenoma

Incorrect. True sebaceous adenomas (along with sebaceous carcinoma and keratoacanthoma) are associated with Muir-Torre syndrome: skin tumors and HNPCC related tumors. This is distinct from the facial angiofibromas of tuberous sclerosis, which were historically misnamed 'adenoma sebaceum.'

Trichilemmoma

Incorrect. The presence of multiple facial trichilemmomas are associated with Cowden syndrome - hamartomas, soft tissue tumors, skin tumors, breast cancer, GI polyps; caused by PTEN mutation.

Angiokeratoma corporis diffusum

Incorrect. The corporis diffusum type of angiokeratoma is associated with Fabry disease.

Summary