title: Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report.
abstract: Cavernous malformations (CMs) of the central nervous system can occur in a sporadic condition or as a familial form with an autosomal-dominant inherited pattern. Apart from a family history, some clinical features may help to identify familial CMs. We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial CMs. A genetic study confirmed a nonsense mutation (c.1708A>T) in the KRIT1 gene.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital - Kaohsiung Medical Center, 123, Ta-Pei Road, Niao-Sung, Kaohsiung County 833, Taiwan.
authors.forename: Min-Yu
authors.initials: MY
authors.lastname: Lan
authors.forename: Yu-Fan
authors.initials: YF
authors.lastname: Liu
authors.forename: Chao-Chen
authors.initials: CC
authors.lastname: Huang
authors.forename: Chen-Huei
authors.initials: CH
authors.lastname: Peng
authors.forename: Jia-Shou
authors.initials: JS
authors.lastname: Liu
authors.forename: Yung-Yee
authors.initials: YY
authors.lastname: Chang
mesh_terms: D000293:Adolescent; D000328:Adult; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics*; D002196:Capillaries / Q000002:abnormalities; D020785:Central Nervous System Vascular Malformations / Q000150:complications / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D006391:Hemangioma / Q000150:complications / Q000235:genetics*; D006801:Humans; D000075927:KRIT1 Protein; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017445:Skin Diseases, Vascular / Q000150:complications / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*; D020758:Spinal Cord Vascular Diseases / Q000150:complications / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins