Genodermatoses and Nevi Flashcards

Multiple mucocutaneous lentigines with cardiac and endocrine anomalies (LEOPARD/Noonan with multiple lentigines) are caused by mutations in which gene?

Answer: PTPN11

LEOPARD (Noonan with multiple lentigines) syndrome most commonly results from PTPN11 mutations affecting the RAS-MAPK pathway.

Perioral and acral mucocutaneous pigmented macules combined with intestinal hamartomatous polyps indicate:

Answer: Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (STK11/LKB1 mutation) features perioral lentigines and hamartomatous GI polyps with elevated cancer risk.

Trichilemmomas and oral papillomas with increased breast and thyroid cancer risk characterize which PTEN-related syndrome?

Answer: Cowden syndrome

Cowden syndrome (PTEN mutation) presents with facial trichilemmomas, oral cobblestoning, and risk of breast and thyroid cancers.

Fibrofolliculomas, trichodiscomas, and acrochordons with renal tumors and spontaneous pneumothorax define:

Answer: Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (FLCN mutation) features follicular hamartomas plus lung cysts, pneumothorax, and renal tumors.

Multiple basal cell carcinomas, palmar pits, odontogenic keratocysts, and calcification of the falx cerebri characterize:

Answer: Gorlin (nevoid basal cell carcinoma) syndrome

Gorlin syndrome (PTCH1 mutation, hedgehog pathway) causes early multiple BCCs, jaw keratocysts, palmar pits, and falx calcification.

Epidermal cysts, osteomas, desmoid tumors, and colonic polyposis point to which syndrome?

Answer: Gardner syndrome

Gardner syndrome, a variant of familial adenomatous polyposis (APC mutation), combines epidermoid cysts and osteomas with high colon cancer risk.

Sebaceous neoplasms plus visceral (especially colorectal) malignancies, caused by mismatch repair defects, define:

Answer: Muir-Torre syndrome

Muir-Torre syndrome, a variant of Lynch syndrome, pairs sebaceous tumors and keratoacanthomas with internal malignancies from MMR gene mutations.