A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.
BACKGROUND
Retinal dystrophy and ichthyosis occur together in patients with the well-characterized disorders of Refsum disease and Sjögren-Larsson syndrome. Rud syndrome formerly was considered a genetically heterogeneous but distinct clinical entity with the manifestations of icthyosis, hypogonadism, small stature, mental retardation, epilepsy, and, infrequently, retinitis pigmentosa. Although there are at least 55 case reports of Rud syndrome in the medical literature, the existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. 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.


METHODS
Two unrelated women with a disorder showing retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup. The ocular and systemic findings are compared with those previously described for retinal dystrophy and ichthyosis disorders.


RESULTS
These cases were found to be 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.


CONCLUSIONS
The association of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram may represent a distinct syndrome previously considered a subset of the now defunct Rud syndrome.
Kaufman
L M
LM
Department of Ophthalmology and Visual Sciences, UIC Eye Center, University of Illinois at Chicago College of Medicine 60612, USA.
D000328:Adult; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000172:deficiency; D004569:Electroencephalography; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006130:Growth Disorders / Q000097:blood / Q000150:complications* / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications* / Q000473:pathology; D007057:Ichthyosis / Q000097:blood / Q000150:complications* / Q000473:pathology; D008607:Intellectual Disability / Q000097:blood / Q000150:complications* / Q000473:pathology; D007986:Luteinizing Hormone / Q000097:blood; D012174:Retinitis Pigmentosa / Q000097:blood / Q000150:complications* / Q000473:pathology; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D018997:Chorionic Gonadotropin, beta Subunit, Human; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone