We describe two patients, a 19‐year‐old girl and a 19‐year‐old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures ‐ clinical manifestations of long survivors with mosaic or non‐mosaic trisomy 18. In addition, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non‐mosaic trisomy 18 for pigmentary dysplasias.
Sera of 65 hemophiliacs, 85 hemodialysis patients and 304 healthy volunteer blood donors in Japan were tested for antibodies against both HTLV-I and -III by an indirect immunofluorescence and radioimmunoprecipitation assay. The results showed that 10 (15.4%) of the hemophiliacs were anti-HTLV-III positive, while all other subjects were anti-HTLV-III negative. All groups contained subjects positive for anti-HTLV-I. The prevalence of the antibody in the hemophiliacs (17.4%) and hemodialysis patients (9.4%) was significantly high as compared to that of healthy controls (1%).
A sister and brother with congenital leucocyte adhesion deficiency developed systemic-onset juvenile rheumatoid arthritis (JRA). They showed polyarthritis, spiking fever, reddish eruptions, anaemia, hepatosplenomegaly, increased erythrocyte sedimentation rate, and positive rheumatoid factor. Occurrence of JRA in our patients was thought to be mainly due to a combination of recurrent bacterial infections and abnormal lymphocyte function as a consequence of membrane adhesion-protein deficiency. In view of the familial occurrence, hereditary factors may have played a role in the development of JRA in our patients.
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