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1.
Cutis ; 96(5): 329-32, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26682556

ABSTRACT

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).


Subject(s)
Angiokeratoma/diagnosis , Hemangioma, Cavernous, Central Nervous System/diagnosis , Hemangioma/diagnosis , Skin Neoplasms/diagnosis , Aged , Angiokeratoma/genetics , Angiokeratoma/pathology , Hemangioma/genetics , Hemangioma/pathology , Hemangioma, Cavernous, Central Nervous System/genetics , Hemangioma, Cavernous, Central Nervous System/pathology , Humans , KRIT1 Protein , Male , Microtubule-Associated Proteins/genetics , Mutation , Proto-Oncogene Proteins/genetics , Skin Neoplasms/genetics , Skin Neoplasms/pathology
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