Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases.
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.
Murano
I
I
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Ohashi
H
H
Tsukahara
M
M
Tonoki
H
H
Okino
F
F
Atsumi
M
M
Kajii
T
T
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics*; D014314:Trisomy