Article
Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas.
Cutis - 1 Nov 2015
Whitworth Walter W, Hick Ryan W, Nelson Kelly C, Sidhu-Malik Navjeet K
Abstract excerpt
We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).
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