Article
Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
Dermatology (Basel, Switzerland) - 1 Jan 2009
Toll Agustí, Parera Elisabet, Giménez-Arnau Ana M, Pou Alejandro, Lloreta Josep, Limaye Nisha, Vikkula Miikka, Pujol Ramon M
Abstract excerpt
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Although often asymptomatic, seizures, cerebral haemorrhages and focal neurological deficits are well-documented complications. Mutations in the CCM1 (7q21-22), CCM2 (7p13-15) and CCM3 (3q25.2-27) genes have been identified in familial CCM. In rare...
Topics
- Adult
- Aged, 80 and over
- Brain Neoplasms
- Central Nervous System Vascular Malformations
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins