Résumé
Shabbir syndrome is a rare, progressive, multisystem disorder with an autosomal recessive pattern of inheritance. It mainly afflicts children from Punjabi Muslim families of Pakistan and India. The genetic anomaly has been mapped as a mutation in LAMA3 gene on chromosome 18q 11.2
A 17-year-old male presented to us with history of recurrent skin ulcers, nail dystrophy andlaryngeal obstruction. Fresh ulcers, older crusted ulcers and cicatrisation in his head and neck area were strikingly obvious. Skin biopsy was submitted and revealed characteristic exuberant granulation tissue with a mixed acute and chronic cell infiltrate. Other features are also described. LAMA3 gene is responsible for the production of laminin a3 which is one of the three components of laminin, a heterotrimeric. Laminin is an important part of the cell membrane and extends into the dermis. Its presence is a signal to the dermis that the basement membrane is intact and the production of granulation tissue is kept in check. Abnormal laminin fails to do it resulting in excessive, undesirable granulation tissue production. Understanding this feedback mechanism may enable us to control the production of granulation tissue in Shabbir syndrome as well as other diseases like rheumatoid arthritis and chronic venous ulcers