Neuroichthyosis with hypogonadism (Rud's syndrome).
Rud's syndrome is a neuroichthyosis with hypogonadism, associated with mental deficiency and epilepsy. Short stature is a frequent component of the syndrome. The primary genetic defect and the pattern of inheritance have not yet been determined. A typical patient is presented, with mental deficiency, short stature, pypoacusia, muscular atrophy, tylosis, pseudoacanthosis nigricans and endocrine disturbances. The neuroichthyosis with hypogonadism must be considered Rud's syndrome. A classification of neuroichthyosis is proposed. In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or spasticity.
D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007057:Ichthyosis / Q000151:congenital*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009133:Muscular Atrophy / Q000150:complications; D012035:Refsum Disease / Q000175:diagnosis; D013008:Somatotypes; D013577:Syndrome