Rud's Syndrome.
10.5021/ad.2000.12.3.206
- Author:
Hwan HERR
;
Jai Kyoung KOH
;
Chung Hwan KIM
;
Jeong Uk KIM
;
Haing Sub CHUNG
- Publication Type:Case Report
- Keywords:
Rud's syndrome;
Lamellar ichthyosis;
Mental retardation;
Hypogonadism
- MeSH:
Adolescent;
Alopecia;
Asian Continental Ancestry Group;
Cataract;
Dislocations;
Eyebrows;
Female;
Genetic Diseases, Inborn;
Hip;
Humans;
Hypogonadism;
Ichthyosis;
Ichthyosis, Lamellar;
Intellectual Disability;
Japan;
Musculoskeletal Abnormalities;
Strabismus
- From:Annals of Dermatology
2000;12(3):206-210
- CountryRepublic of Korea
- Language:English
-
Abstract:
Rud's syndrome (RS), basically composed of ichthyosis, mental deficiency and hypogonadism, is a rare hereditary disease. Some varying dermatologic, neurologic, endocrinologic, ophthalmologic and musculoskeletal abnormalities have coincided with RS. No case of RS has been documented from Asian countries except one from Japan. We describe a 16-year-old girl who presented with lamellar ichthyosis, mental retardation, hypogonadism, short stature, alopecia, sparse eyebrows, strabismus, cataracts, and congenital dislocation of the hip. To our knowledge, RS coexisting congenital dislocation of the hip herein is the first case in English literature.
