title: Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas.
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).
authors.affiliation: Greensboro Dermatology, North Carolina, USA.
authors.forename: Walter W
authors.initials: WW
authors.lastname: Whitworth
authors.affiliation: ProPath Dermatopathology, Dallas, Texas, USA.
authors.forename: Ryan W
authors.initials: RW
authors.lastname: Hick
authors.affiliation: University of Texas MD Anderson Cancer Center, Houston, USA.
authors.forename: Kelly C
authors.initials: KC
authors.lastname: Nelson
authors.affiliation: Department of Dermatology, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Navjeet K
authors.initials: NK
authors.lastname: Sidhu-Malik
mesh_terms: D000368:Aged; D000794:Angiokeratoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006391:Hemangioma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins