Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities.
We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobomas, conductive hearing loss, seizures, mental retardation, and similar facial features. The results of electron microscopic studies performed on skin biopsy specimens from the patients differed significantly from those of previously reported cases of ichthyosiform dermatoses with associated neurologic and ophthalmologic abnormalities; they appear to represent a new neuroectodermal syndrome.
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000150:complications*; D006314:Hearing Loss, Conductive / Q000150:complications*; D006801:Humans; D007057:Ichthyosis / Q000151:congenital* / Q000473:pathology; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D012160:Retina / Q000002:abnormalities*; D012640:Seizures / Q000150:complications; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D013577:Syndrome