Rud's Syndrome

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.

A Branchial Cleft Cyst-Like Lymphoepithelial Cyst in the Thyroid Gland: A case report

The lymphoepithelial cyst (LEC) rarely occurs in the thyroid gland. The LEC has been thought to be related to developmental rest, namely solid cell nest, which is derived from ultimobranchial body. We report a case of lymphoepithial cyst in a 34- year-old woman clinically diagnosed with Hashimoto's thyroiditis. The cyst was located in mid to lower portion of the left lobe. It was a single unilocular cyst, which for the most part was lined with squamous epithelium, and at certain foci with ciliated columnar epithelium. The cyst wall showed a dense lymphocytic infiltration, numerous lymphoid follicles with germinal centers and admixed thyroid follicles. This morphology is similar to the branchial cleft cyst, with the exception of the thyroid follicles in the cyst wall. Near the cyst were several solid epidermoid cell nests. Immunohistochemical stain of this cyst-lining epithelium and solid cell nests showed CEA positivity. In view of the similarity in histomorphology and CEA positivity to branchial cleft cyst of the lateral neck, the LEC of the thyroid could also have been of branchial origin. However, the admixed thyroid follicles in the cyst wall suggests that the LEC of the thyroid gland might have derived from another branchial cleft as a ultimobranchial body, because it has the potential for thyroid follicular differentiation.

A case of Limited Scleroderma Associated with Antiphospholipid Syndrome / 대한류마티스학회지

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.

A Case of Diffuse Scleroderma Associated with Primary Biliary Cirrhosis and Isolated Pulmonary Hypertension / 대한류마티스학회지

Primary biliary cirrhosis is frequently associated with a variety of disorders presumed to be autoimmune in nature, such as Sjogrens syndrome, scleroderma, rheumatoid arthritis, systemic lupus erythematosus, and autoimmune thyroiditis. Scleroderma has been recognized in association with primary biliary cirrhosis. Most cases present as the CREST (calcinosis cutis, Raynauds phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome. Isolated pulmonary hypertension develops in a small proportion of patients, nearly all of whom have limited cutaneous involvement. We report a case who has diffuse scleroderma associated with primary biliary cirrhosis and isolated pulmonary hypertension.