Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases |
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Authors: | I. Murano H. Ohashi M. Tsukahara H. Tonoki F. Okino M. Atsumi T. Kajii |
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Affiliation: | Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan. |
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Abstract: | 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. |
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Keywords: | mosaicism pigmentation skin trisomy 18 |
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