MENKES DISEASE IN A THIRTEEN-YEAR-OLD MALE

Kevin DeHart, DO, Kevin Belasco, DO, Marya Cassandra, DO, Sun Coast Hospital/NOVA Southeastern University, Largo, FL, United States

American Academy of Dermatology 64th Annual Meeting

Mar 03, 2006 to Mar 07, 2006

Poster Abstract

Abstract P2509

Menkes disease is a rare, X-linked recessive genodermatosis resulting from a copper transport mutation. This defect in copper metabolism results in characteristic cutaneous, hair, skeletal, and internal abnormalities. We report one of the oldest surviving patients with Menkes disease. The characteristic physical examination findings, pathophysiology, diagnostic studies, and possible treatment options are presented.

Author disclosure: Nothing disclosed at press time.

Commercial support: None.