A de novo missense mutation of the CYLD gene with multiple familial trichoepithelioma.

Abstract

A 7-year-old Chinese girl presented with a 5-year history of multiple skin-colored papules on the nasal dorsum, nasolabial folds and eyelids, which increased in size and number with age. On cutaneous examination, we observed numerous asymptomatic, firm, skin-colored papules favoring the nasal dorsum, nasolabial folds and eyelids (Fig.1a) Her parents did not show similar eruptions. None of the girl and her parents had any other skin tumors such as cylindromas or spiradenomas. No consanguineous relationship was found in her family.