Delayed diagnosis in angiokeratoma corporis diffusum (Anderson-Fabry's disease).
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چکیده
منابع مشابه
Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.
Eighteen males, 17 of whom were members of a single family, affected with angiokeratoma corporis diffusum were examined in detail to determine the extent of clinical variation of the expression of what was almost certainly the same X-linked mutation in each. The commonest symptom was episodic bouts of severe, painful dysaesthesia in hands and feet. This was a major complaint of 12, a minor comp...
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 کاملAngiokeratoma 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 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 کاملHeterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Heterozygote detection for angiokeratoma corporis diffusum (Anderson-Fabry disease, ACD), an X-linked disorder of glycosphingolipid metabolism was examined using alpha-galactosidase activity, an alpha-galactosidase/beta-galactosidase activity ratios (alpha/beta ratio) in leucocytes, plasma, and hair follicles; For leucocytes, 22 obligate heterozygotes, 25 suspected heterozygotes, and 47 control...
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ژورنال
عنوان ژورنال: BMJ
سال: 1977
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.1.6053.83