Physiopathogenic Investigations in a Case of Familial Stiff-Skin Syndrome

Abstract

Background: Stiff-skin syndrome (SSS) is a rare cutaneous syndrome characterized by stony-hard skin and limitation of joint mobility. Its cause is still unknown. Objective: Biological investigations were performed in a new case of SSS. Methods: Collagen production and DNA biosynthesis were studied from fibroblast culture. Proinflammatory cytokines (TNF-α, IL-6 and TGF-β2) were measured in the patient’s serum. Results were compared with pathological findings. Results: Collagen production and DNA biosynthesis were normal whereas the level of circulating cytokines was high. Histological examination of the skin showed mild fibrosis in the dermis whereas the fascia was not thickened. Conclusion: Our clinical and biological findings suggest that in this case, cutaneous changes may be related to an inflammatory process rather than to a primary fibroblast defect or a fascial abnormality as previously hypothesized.

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

“…Prior work interrogating the pathogenesis of SSS has been largely observational, with few derived mechanistic insights (2–18). Findings include increased collagen production and DNA synthesis in the dermis and increased circulating cytokines including TNFα, IL-6 and TGFβ2(13, 19, 20). …”

Síndrome stiff skin: relato de caso

“…The fascia might or might not be thickened. 4 The patient fulfilled the clinical criteria for SSS although he did not have hypertrichosis, which is a variable finding, developing over hardened skin areas. He had the abdominal lesions with the characteristić´c obblestone´´ pattern as well as an accentuation of the lumbar lordosis and flexion of the knees, typical of SSS.…”

“…However, systemic corticosteroids and immunosuppressant drugs do not modify the progress of the syndrome. 2,4,9 There are familial and consanguineous reports in 30% of the cases, which suggests the possibility of genetic transmission.…”

“…4,14 The localized scleroderma, also known as morphea, presents with mostly cutaneous involvement and only rarely involves the joints, causing contractures and retraction of the limbs. 15 The histology differs from SSS, with lymphocytic infiltrate on the dermal-epidermal junction and abnormally sclerotic collagen on the reticular dermis, and it responds favorably to treatment with anti inflammatory medication.…”

Eleven‐year‐old girl with skin hardening and restricted mobility in the lower limbs

“…Stiff skin syndrome was first described by Esterly and McKusick 1 and was further characterized by Jablonska and Blaszczyk, 2 who proposed the name of congenital fascial dystrophy. Although familiar cases have been described, most cases are sporadic 3,4 . Affected children are born normally and develop the condition insidiously around the first year of life or during early childhood.…”