Angiokeratoma corporis diffusum. Some clinical aspects.
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منابع مشابه
Angiokeratoma corporis diffusum. Some clinical aspects.
Angiokeratoma corporis diffusum is a disorder which has tended to escape the attention of paediatricians, though the first symptoms and signs usually develop during childhood. Since the original independent descriptions in 1898 by Anderson and by Fabry, it has been recognized as a systemic disease rather than a dermatological curiosity. Recent work by Sweeley and Klionsky (1963, 1966) suggests ...
متن کاملAngiokeratoma corporis diffusum--a case report.
Angiokeratoma corporis diffusum, a rare clinical type of angiokeratoma, reported in association with various diseases of which Fabry disease is most common. Fabry disease, an X-linked recessive inborn error of glycosphingolipid metabolism due to deficiency of lysosomal enzyme αgalactosidase A . Clinically the disease is characterized by acroparesthesias, multiple cherry red coloured raised angi...
متن کاملOcular manifestations in angiokeratoma corporis diffusum (Fabry).
The diagnosis in males can usually be made on the skin lesions, the numerous dark red macules and papules, appearing in the second decade. Severe pain in the hands and feet, increasing in heat and cold, is the first serious complaint. At a later stage the vascular anomalies in the heart and kidneys become a prominent feature. Renal failure is the usual cause of death, which occurs in the fifth ...
متن کاملAngiokeratoma corporis diffusum: the evolution of a disease entity.
The clinical features, diagnosis management, aetiology and inheritance of angiokeratoma corporis diffusum (Fabry's disease) are discussed and the literature reviewed. The treatment and knowledge generally of this rare condition have not greatly improved in 75 years.
متن کاملAngiokeratoma corporis diffusum with features of a mucopolysaccharidosis.
Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1968
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.43.227.73