Rud's Syndrome

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.