Angiokeratoma corporis diffusum: the evolution of a disease entity.
نویسنده
چکیده
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.
منابع مشابه
Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities.
BACKGROUND Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations. OBSERVATIONS We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency. A review of the literature r...
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...
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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.
متن کاملFordyce angiokeratoma
A 55 year-old Caucasian man, with Diabetes Melitus type 2 history, presented to our department with complaints of multiple, dark red papules located on the scrotum. The diagnosis of Fordyce angiokeratoma was clinically established. No special treatment was recommended, apart from patient's reassurance for the benign nature of this clinical entity. Fordyce angiokeratoma or angiokeratoma of the s...
متن کاملA rare clinic type of angiokeratoma: angiokeratoma circumscriptum naeviforme
Angiokeratomas are verrucous, hyperkeratotic, red-black, well-demarcated papules and plaques consisting of vascular enlargement and hyperkeratosis [1]. Five different clinical variants of angiokeratoma have been identifined including angiokeratoma corporis diffusum (Fabry’s disease), angiokeratoma Mibelli, angiokeratoma Fordyce, angiokeratoma circumscriptum, solitary and multiple angiokeratomas...
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ورودعنوان ژورنال:
- Postgraduate medical journal
دوره 53 616 شماره
صفحات -
تاریخ انتشار 1977