[Blau syndrome or familial form of sarcoidosis with onset during infancy]

Ann Dermatol Venereol. 1996;123(1):29-30.
[Article in French]

Abstract

Introduction: Blau syndrome is a granulomatous disease with dominant autosomal transmission. Skin, joint and ocular manifestations usually appear in childhood.

Case reports: A father and his son had granulomatous disease with skin and joint manifestations beginning in childhood. Both patients had inflammatory polyarticular deformations of the small and medium sized joints with formation of synovial cysts. Skin manifestations were seen only in the son who presented diffuse micropapulous eruptions. Histology examination of the superficial and deep derma revealed an epithelioid granuloma without necrosis.

Discussion: Our case are similar to the syndrome described by Blau who recognized the familial nature of early onset sarcoidosis and probable autosomal dominant transmission together with joint deformation and development of synovial cysts without pulmonary involvement.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Age Factors
  • Arthritis / genetics*
  • Child, Preschool
  • Fingers / abnormalities
  • Granuloma / genetics*
  • Granuloma / pathology
  • Humans
  • Male
  • Sarcoidosis / genetics*
  • Skin Diseases / genetics*
  • Skin Diseases / pathology
  • Syndrome
  • Synovial Cyst / genetics*