TY - JOUR
T1 - Vertebral hemangiomas associated with familial cerebral cavernous malformation
T2 - segmental disease expression. Case report.
AU - Clatterbuck, Richard E.
AU - Cohen, Bernard
AU - Gailloud, Philippe
AU - Murphy, Kieran
AU - Rigamonti, Daniele
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0036726875&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036726875&partnerID=8YFLogxK
M3 - Article
C2 - 12296684
AN - SCOPUS:0036726875
SN - 0022-3085
VL - 97
SP - 227
EP - 230
JO - Journal of neurosurgery
JF - Journal of neurosurgery
IS - 2 Suppl
ER -