PHYSIOPATHOGENIC INVESTIGATIONS IN A CASE OF FAMILIAL STIFF-SKIN SYNDROME

Background: Stiff-skin syndrome (SSS) is a rare cutaneous syndrome cha racterized by stony-hard skin and limitation of joint mobility. Its ca use is still unknown. Objective: Biological investigations were perfor med in a new case of SSS. Methods: Collagen production and DNA biosynt hesis were studied from fibroblast culture. Proinflammatory cytokines (TNF-alpha, IL-6 and TGF-beta 2) were measured in the patient's serum. Results were compared with pathological findings. Results: Collagen p roduction and DNA biosynthesis were normal whereas the level of circul ating cytokines was high. Histological examination of the skin showed mild fibrosis in the dermis whereas the fascia was not thickened. Conc lusion: Our clinical and biological findings suggest that in this case , cutaneous changes may be related to an inflammatory process rather t han to a primary fibroblast defect or a fascial abnormality as previou sly hypothesized.