Résumé :
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Objectives : To elucidate the role of skin biopsy in the diagnosis of dystrophinopathies. Study design : Paired skin and muscle biopsies from 39 cases of Duchenne muscular dystrophy, 4 cases of Becker muscular dystrophy and 37 controls were studied. Immunostaining for dystrophin (Dys1, 2, 3) and utrophin was done on frozen sections of the cases and controls and their staining pattern in skin biopsies was compared with corresponding muscle biopsies. Results : Immubostaining for Dys1, 2 and 3 was negative in the skin biopsies of all patients (39/39, 100%) who were diagnosed as DMD and was weakly expressed in BMD patients (4/4,100%). Dys1, 2, 3 were strongly expressed in the arrector pili muscles of 35 controls patients (94.6%) but was weakly expressed in 2 controls. Utrophin was expressed on the arrector pili muscles of all test patients (39/39,100%) but was also expressed in controls (30/37, 81.1%). Conclusion :Our study suggests that skin biopsy is very useful for the diagnosis of Duchenne/ Becker's muscular dystrophy. It can be a useful adjunct/replacement for muscle biopsy in the diagnosis of these cases especially in end stage muscle diseases where muscle is replaced by fat infiltration, and as a screening test for the diagnosis before genetic studies. In future it can be used as a routine test in the follow up of these cases after gene therapy, as it is easy to perform and can be repeated frequently. Our findings also suggest that punch biopsy is better than open skin biopsy.
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