Ann Dermatol.  2000 Sep;12(3):206-210. 10.5021/ad.2000.12.3.206.

Rud's Syndrome

• Herr H
• Koh JK
• Kim CH
• Kim JU
• Chung HS

• KMID: 2163983
• DOI: http://doi.org/10.5021/ad.2000.12.3.206

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.

Keyword

Rud's syndrome; Lamellar ichthyosis; Mental retardation; Hypogonadism

MeSH Terms

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