Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome.
A patient has been studied in whom an atypical ichthyosiform erythroderma was associated with congenital neurosensory deafness, vascularization of the corneas progressing to blindness, alopecia totalis, abnormalities of the teeth and nails, and postnatal growth deficiency. Twelve other patients with a similar pattern of malformation have been reported previously. This syndrome appears to represent a distinct disorder with a pattern of inheritance which is most likely autosomal recessive.
D000293:Adolescent; D000505:Alopecia / Q000150:complications; D001706:Biopsy; D003315:Cornea / Q000098:blood supply; D003638:Deafness / Q000150:complications / Q000151:congenital*; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D008297:Male; D009262:Nails; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications; D012872:Skin Diseases, Vesiculobullous / Q000150:complications*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications