[Rheumatoid Arthritis, Progressive Systemic Sclerosis Without Skin Involvement and Mixed Collagen Disease in a Family. Clinical Description of a Mother and Her 3 Adult Children--studies of HLA Antigens and Review of the Literature]

We report on four members of a family with rheumatic diseases. Rheumatoid arthritis of an extremely severe and mutilating type developed in a 17-year-old boy (Patient 1). The disease showed some characteristics of juvenile chronic arthritis. 20 years later his sister (Patient 2) was affected by progressive systemic sclerosis (PSS) with arthritis, Raynaud's phenomenon, aperistalsis of the esophagus and pulmonary fibrosis, however without skin involvement. After 2 years rheumatoid arthritis developed in the mother of the family (Patient 3) and another 2 years later the second son (Patient 4) was affected by mixed connective tissue disease (MCTD) with arthritis, Raynaud's phenomenon, aperistalsis of the esophagus and a high titer of antibody to extractable nuclear antigen (ENA). Rheumatoid factor was found in Patient 1, 2 and 3. All members of the family expressed HLA-DR3 in association with HLA-B8. Earlier reports in the medical literature of the familial occurrence of rheumatoid arthritis, progressive systemic sclerosis, systemic lupus erythematosus and other collagen diseases, e.g. mixed connective tissue disease, are reviewed, with a discussion of the possible etiologic mechanisms.