Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.
Rud syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, epilepsy and hypogonadism. The authors report a family with this autosomal recessive disorder, review the clinical and dermatopathological findings, and contrast Rud syndrome with the other major neuro-ichthyosiform dermatoses.
D000293:Adolescent; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013577:Syndrome