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

摘要

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 < .0001). This finding had a high specificity (84%, 95% CI 74-93), without notably decreasing sensitivity (66%, 95% CI 54-77). Hypertrophic, large, or atrophic surgical or posttraumatic, frequently hypopigmented or hyperpigmented, scars were present in 46% of patients with MS and 21% of control subjects (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.