A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.
Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor Kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from Refsum disease, Sjögren-Larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.
Stoll
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Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
Eyer
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D000015:Abnormalities, Multiple / Q000145:classification* / Q000235:genetics; D000293:Adolescent; D001827:Body Height; D005145:Face / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007057:Ichthyosis / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics; D012600:Scoliosis; D013577:Syndrome