Abstract
A familial occurrence of progressive systemic sclerosis (PSS) in an elder sister and CREST syndrome in a younger sister was reported. The elder sister noted Raynaud's phenomenon at 53-year-old. When she was reffered to Katta Municipal Hospital in January 1983 at 61-year-old, she had Raynaud's phenomenon, proximal scleroderma, digital pitting scar, systemic hyperpigmentation and paralytic ileus. She had anti-nuclear antibody and anti-Scl 70 antibody. She was diagnosed as PSS and treated initialy with prednisolone at 40mg/day and later along with D-penicillamine at 100mg/day. The younger sister noted Raynaud's phenomenon at 30-year-old in 1954. On admission to our Hospital in September 1990, she was noticed to have Raynaud's phenomenon, sausage-like swelling of fingers and positive anti-centromere antibody along with anti-mitochondrial antibody. She was diagnosed as CREST syndrome based on her additional symptoms of calcinosis, esophageal dysmotility and telangiectasia.
Eighteen cases of familial occurence of PSS have been reported in the international literature in the world and 2 familial cases in Japan. In this report, two sisters, one PSS and another CREST syndrome were presented. Their HLA haplotype were A 24 (9), Bw 52 (5), DR 2/Bw 54 (w 22), DR 4 in PSS and A 24 (9), Bw 52 (5), DR 2/A 31 (w 19), B 51 (5), DRw 8 in CREST syndrome.
