ABSTRACT
Endocrine function tests and a broad panel of autoantibodies to endocrine organs were assessed in 77 patients aged 5-14 years with Ullrich-Turner syndrome (UTS), who were included in the German UTS Multicenter Study. None of these patients had abnormal pituitary, thyroid or adrenocortical function, as assessed by the adequate hormone tests. Antibodies to thyroid microsomes were found in 3 of the 77 (3.9%), antibodies to thyroglobulin in 0/77, antibodies to adrenocortical cells in 1/77 (1.3%), gastric parietal cell antibodies in 2/77 (2.6%), and anterior pituitary cell antibodies in 3/77 (3.9%) probands. These prevalences were not significantly higher than those obtained in 154 age- and sex-matched normal control children when 2 control subjects were assigned to each patient with UTS. Our data do not show an increase in serological signs of endocrine autoimmunity in young patients with UTS suggesting that a putative association of these syndromes does not exist from birth and is not usually present in childhood. However, we cannot exclude the possibility that UTS is associated with factors that render these patients more susceptible to endocrine autoimmunity later in life.
Subject(s)
Autoantibodies/blood , Endocrine Glands/immunology , Turner Syndrome/immunology , Adolescent , Adrenal Cortex/immunology , Adrenal Cortex/physiopathology , Child , Child, Preschool , Endocrine Glands/physiopathology , Female , Humans , Pituitary Gland/immunology , Pituitary Gland/physiopathology , Thyroid Gland/immunology , Thyroid Gland/physiopathology , Turner Syndrome/physiopathologyABSTRACT
A 41-year-old man with skin lesions typical of Dyskeratosis congenita had lost a great deal of weight in a relatively short time. Intensive examination of the internal organs indicated that some changes had taken place that were typical of the dermatological diagnosis, but so far clinical examination has not found a neoplasm or other severe internal diseases.
Subject(s)
Ectodermal Dysplasia/pathology , Adult , Humans , Leukoplakia, Oral/pathology , Male , Mouth Mucosa/pathology , Nails/pathology , Skin/pathologyABSTRACT
A 73-year-old women developed tight blisters exclusively on the legs. The histological and immunological examinations substantiated the diagnosis of localized pemphigoid. The disease had a chronic course and responded well to treatment with prednisolone.
