Hypomelanosis associated with a colonic abnormality. A possible result of defective development of the neural crest.
A neonate born of black parents displayed a congenital, dramatic deficiency of most of his normal pigmentation. This was accompanied by a markedly dilated colon and various other defects. Light- and electron-microscopic examination revealed a deficiency in melanin content in the hypopigmented skin as compared to the normally pigmented areas. No other defects were noted. The possibility exists that a single aberration in neural crest development, a neurocristopathy, might be responsible for our patient's multiple congenital defects. Similar conditions in veterinary medicine and human disease are reviewed and compared to this case.
D000015:Abnormalities, Multiple / Q000196:embryology; D044383:Black People; D006627:Hirschsprung Disease / Q000150:complications* / Q000196:embryology / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008544:Melanocytes / Q000473:pathology; D009432:Neural Crest / Q000502:physiology; D010859:Pigmentation Disorders / Q000150:complications* / Q000196:embryology / Q000473:pathology; D012880:Skin Pigmentation