New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers

Am J Med Genet. 1993 Apr 15;46(2):228-34. doi: 10.1002/ajmg.1320460225.


We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, "coarse" face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Diseases / diagnostic imaging
  • Bone Diseases / genetics*
  • Gingival Hypertrophy / genetics
  • Gingival Hypertrophy / pathology
  • Humans
  • Joint Diseases / diagnostic imaging
  • Joint Diseases / genetics*
  • Male
  • Mitral Valve Prolapse / genetics*
  • Radiography
  • Skin Diseases / genetics*
  • Skin Diseases / pathology