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.
Subject(s)
Adolescent , Female , Humans , Alopecia , Asian People , Cataract , Joint Dislocations , Eyebrows , Genetic Diseases, Inborn , Hip , Hypogonadism , Ichthyosis , Ichthyosis, Lamellar , Intellectual Disability , Japan , Musculoskeletal Abnormalities , StrabismusABSTRACT
The antiphospholipid syndrome is characterized by arterial thrombosis, venous thrombosis, pregnancy wastage, and thrombocytopenia associated with a persis tently positive lupus anticoagulant and/or moderate to high positive anticardiolipin antibodies(IgG or IgM). The antiphospholipid antibodies have been detected in many medical conditions, but the antiphospholipid syndrome (APS) has mainly been restricted to the primary antiphospholipid syndrome and APS associated with systemic lupus erythematosus. Rarely, the APS has been reported in other autoimmune disorders in the literature. We describe a woman with a limited form of scleroderma and the APS manifested by complete occlusion of left axillary artery with probable thrombotic occlusive nature, thrombocytope nia, prolonged aPTT, and persistently positive lupus anticoagulant.