Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome)

Pediatr Dermatol. 2000 Mar-Apr;17(2):105-10. doi: 10.1046/j.1525-1470.2000.01724.x.

Abstract

Four patients are described with stone-hard indurations of the skin and subcutaneous tissue, predominantly on the buttocks and thighs, in the areas of the thickest fascia lata and glutealis. All cases were sporadic, started in early infancy, were only slightly or not progressive, and showed no visceral involvement or immunologic abnormalities. In all, the hallmark of the disease was strikingly enlarged fascia. In one patient, typical features developed progressively for 9 years, and in two patients the changes remained abortive, limited to some areas, and not symmetrical. The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is of practical importance, since no therapy is required. However, intensive rehabilitation should start in early infancy and continue throughout life. The genetic defect of molecular organization of collagen in the fascia results in formation of giant amianthoid-like collagen fibrils.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy, Needle
  • Child
  • Child, Preschool
  • Disease Progression
  • Fascia / pathology*
  • Fascia / physiopathology
  • Female
  • Humans
  • Prognosis
  • Scleroderma, Systemic / congenital*
  • Scleroderma, Systemic / diagnosis
  • Scleroderma, Systemic / pathology*
  • Skin / pathology
  • Skin / physiopathology
  • Syndrome