SNEDDONS SYNDROME - DIAGNOSIS BY SKIN BIOPSY AND MRI IN 17 PATIENTS

Background and Purpose: Sneddon's syndrome, characterized by generaliz ed livedo racemosa and cerebrovascular lesions, is an underdiagnosed d isease. We evaluated clinical, laboratory, histological, and neuroradi ological findings in a series of 17 patients to improve diagnostic cri teria for Sneddon's syndrome. Methods. Patients with generalized lived o racemosa and cerebrovascular events were included in the study. All underwent neurological and dermatological examination, skin biopsy, co mputed tomographic scan, magnetic resonance imaging as well as magneti c resonance angiography, sonography of the extracranial arteries, and a comprehensive laboratory protocol. Results: Completed stroke was pre sent in eight patients, and 15 reported transient neurological deficit s. Magnetic resonance imaging yielded cerebral abnormalities in 16 of 17, whereas computed tomographic scans were abnormal in only 12 of 16 patients. Magnetic resonance imaging revealed more lesions in individu al patients than did computed tomography. Magnetic resonance angiograp hy demonstrated patent intracranial vessels in 16 of 17 patients. Skin biopsy showed distinct histopathological findings in all patients. Th e involved vessels were small to medium-sized arteries at the border b etween dermis and subcutis. Early inflammatory reactions were followed by subendothelial proliferation and a late fibrotic stage. Laboratory examinations showed impaired creatinine clearance in eight patients, whereas all other laboratory tests, including antiphospholipid antibod ies, were normal. Conclusions: In this series, magnetic resonance imag ing and skin biopsy were useful for confirmation of the diagnosis of S neddon's syndrome. Magnetic resonance findings were not specific, but the high sensitivity for detection of asymptomatic brain lesions helpe d to confirm the diagnosis in patients with transient symptoms. Histol ogical features of skin biopsies were characteristic if appropriate te chniques were employed.