A case-control study of cutaneous signs in adult patients with Marfan disease: Diagnostic value of striae

Background Marfan syndrome (MS) (OMIM 154700) has been associated with various skin manifestations. Objective We sought to clarify the value of skin signs in patients with MS. Methods This was a case-control study. A total of 61 consecutive patients (median age: 34 years) seen in the French Reference Centre for MS and Related Disorders and with a confirmed diagnosis of MS were paired with 61 age-, sex-, and height-paired control subjects. All had a structured interview and standardized dermatologic examination. The gold standard for MS diagnosis was the Ghent criteria. Results Striae of any type were significantly ( P  = .0001) more frequent in patients with MS (92%) than in control subjects (61%), but specificity was low (39%, 95% confidence interval [CI] 27-52). Striae on unusual locations (other than buttock, hip, or thigh) were more frequent in patients with MS (66%) than in control subjects (16%) ( P P  = .007). Sensitivity was 46% (95% CI 34-58) and specificity 79% (95% CI 67-87). Atypical striae in some control subjects could be attributed to intensive practice of sports. Limitation A few control subjects were selected from patients consulting the MS center but without a diagnosis of MS. Conclusion Striae are a good diagnostic criterion for MS, particularly when arising in unusual sites. Other reported skin signs of MS are infrequent. (J Am Acad Dermatol doi:10.1016/j.jaad.2010.01.032.)