title: Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report.
abstract: Recently, several groups of authors have described mutations in the Krev interaction-trapped 1 [corrected] (KRIT1) gene in families in whom cerebral cavernous malformations (CCMs) are present. In a number of French kindreds harboring familial CCMs, cutaneous as well as cerebral manifestations of this autosomal-dominant disorder were demonstrated. Involvement of other tissues has been poorly described. The authors present the proband, in an affected family with a previously reported KRIT1 mutation, in whom vertebral hemangiomas in addition to cerebral and cutaneous lesions were found. One of the vertebral lesions was associated with a large cutaneous lesion. This combination of vertebral and overlying cutaneous lesions suggests segmental disease expression as the result of a second hit during development, implying loss of function as the relevant molecular pathogenic mechanism. This case illustrates that tissue involvement outside the nervous system must be considered when treating patients with familial CCMs.
authors.affiliation: Department of Neurosurgery, The Johns Hopkins Hospital, Baltimore, Maryland 21287, USA.
authors.forename: Richard E
authors.initials: RE
authors.lastname: Clatterbuck
authors.forename: Bernard
authors.initials: B
authors.lastname: Cohen
authors.forename: Philippe
authors.initials: P
authors.lastname: Gailloud
authors.forename: Kieran
authors.initials: K
authors.lastname: Murphy
authors.forename: Daniele
authors.initials: D
authors.lastname: Rigamonti
mesh_terms: D001706:Biopsy; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D015870:Gene Expression / Q000502:physiology; D005799:Genes, Dominant; D006391:Hemangioma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D000075927:KRIT1 Protein; D008159:Lumbar Vertebrae / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013125:Spinal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013904:Thoracic Vertebrae / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins