Rud syndrome
| Rud syndrome | |
|---|---|
.svg) | |
| X-linked recessive inheritance | |
| Symptoms | RUDS |
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance,[1] named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome.[1] Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome does not exist.[2][3]
Presentation
[edit]While inclusion criteria for Rud syndrome have varied considerably, the major manifestations include congenital ichthyosis, hypogonadism, small stature, mental retardation, and epilepsy.[4][5]: 502 [6]: 564 Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.[4]
Eponym
[edit]In 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis. In 1929, he described a 29-year-old female with ichthyosis, hypogonadism, partial gigantism, and diabetes mellitus.[7][8]
References
[edit]- ^ a b "OMIM Entry - 308200 - ICHTHYOSIS AND MALE HYPOGONADISM". www.omim.org. Retrieved 2017-10-29.
- ^ "Whonamedit - dictionary of medical eponyms". www.whonamedit.com. Retrieved 2017-10-29.
- ^ Happle, Rudolf (January 2012). "Rud syndrome does not exist". European Journal of Dermatology. 22 (1): 7. doi:10.1684/ejd.2011.1601. ISSN 1167-1122. PMID 22067942.
- ^ a b Kaufman, Lawrence M. (1998). "A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram". Ophthalmic Genetics. 19 (2): 69–79. doi:10.1076/opge.19.2.69.2318. PMID 9695088.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Rud, E (1927). "Et Tilfaelde af infantilisme med tetani, epilepsi, polyneuritis, ichthyosis og anaemi af perniciøs type". Hospitalstidende (Copenhagen) (in Danish). 70: 525–538.
- ^ Rud, E (1929). "Et tilfaelde af hypogenitalisme (eunuchoidismus femininus) med partiel gigantisme og ichthyosis". Hospitalstidende (Copenhagen) (in Danish). 72: 426–433.