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. Copyright Â
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. Copyright Â
Authors: Yskert von Kodolitsch; Julie De Backer; Helke Schüler; Peter Bannas; Cyrus Behzadi; Alexander M Bernhardt; Mathias Hillebrand; Bettina Fuisting; Sara Sheikhzadeh; Meike Rybczynski; Tilo Kölbel; Klaus Püschel; Stefan Blankenberg; Peter N Robinson Journal: Appl Clin Genet Date: 2015-06-16
Authors: Benjamin J Landis; Courtney E Vujakovich; Lindsey R Elmore; Saila T Pillai; Lawrence S Lee; Jeffrey E Everett; Larry W Markham; John W Brown; Phillip J Hess; Joel S Corvera Journal: Genes (Basel) Date: 2021-12-23 Impact factor: 4.096