MSH6 Mutation in a Family Affected by Muir-Torre Syndrome

Abstrakt

A 70-year-old white man with a history of colorectal adenocarcinoma of the rectosigmoidal part removed 7 years ago and 4 colon polyps resected during the previous 5 years presented with a smooth-surfaced cutaneous nodule on the left cheek measuring 12 3 6 mm. The lesion had been presented for several years but has recently increased in size.

Apart from this lesion, examination yielded multiple small yellowish or skin-colored papules on the face and upper front trunk. Some of the lesions had a central umbilicus, thus being compatible with sebaceous gland hyperplasia.

Klíčová slova

• hereditary nonpolyposis colorectal cancer syndrome
• Muir-Torre syndrome
• Lynch syndrome
• sebaceous carcinoma
• MSH6 mutation
• polymorphism