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.