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 < .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.


CONCLUSIONS
A few control subjects were selected from patients consulting the MS center but without a diagnosis of MS.


CONCLUSIONS
Striae are a good diagnostic criterion for MS, particularly when arising in unusual sites. Other reported skin signs of MS are infrequent.
Department of Dermatology, Université Versailles St-Quentin, Ambroise Paré Hospital, Boulogne, France.
Monica
M
Ledoux
Alain
A
Beauchet
Christophe
C
Fermanian
Catherine
C
Boileau
Guillaume
G
Jondeau
Philippe
P
Saiag
D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002921:Cicatrix / Q000150:complications / Q000175:diagnosis; D003240:Connective Tissue Diseases / Q000175:diagnosis; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis*; D008875:Middle Aged; D012680:Sensitivity and Specificity; D057896:Striae Distensae / Q000150:complications* / Q000175:diagnosis