Mystery Case: Cutaneous lesions in KRIT1-associated cerebral cavernous malformations

An asymptomatic 65-year-old man was seen because of a family history of cerebral cavernous malformations (CCM) and a positive test for the KRIT1/CCM1 (7q21.2) gene mutation. MRI of the brain showed multiple CCM (figure 1). The patient was noted to have innumerable skin lesions over the face, trunk, and limbs (figure 2). Cutaneous lesions occur in 9% of patients with familial CCM, particularly with KRIT1 mutations.1 These include red macules, nodular venous malformations, and hyperkeratotic cutaneous capillary-venous malformations.1 Skin biopsy shows collections of abnormal, dilated thin-walled blood vessels. Familial CCM should be included with the neurocutaneous syndromes.2

Source: Neurology - September 29, 2014 Category: Neurology Authors: Brownlee, W. J., Roxburgh, R. Tags: Other cerebrovascular disease/ Stroke, Other neurocutaneous disorders RESIDENT AND FELLOW SECTION Source Type: research