Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Heterozygous Fabry's disease has an inconstant expression and very few complications. The theory of X-chromosome inactivation which, according to Lyon, occurs hazardly, is illustrated by the fact that the disease is expressed even in hemizygous women. Ophthalmic manifestations, as detected by the slit lamp method, are almost constant, 80 p. 100 of women with the disease having a verticillate cornea. Angiokeratoma is present in 20 p. 100 of the cases. Episodes of paraesthesia of the hands and feet are less common; in most cases they are attributed to the disease retrospectively, during family investigations. In two girls aged 10 and 11 years respectively and without history of Fabry's disease the only symptom suggestive of the diagnosis was paroxysmal acroparaesthesia. In one of the girls acroparaesthesia was associated with acrocyanosis, livedo and acro-osteolysis, but concordance was the only argument in favour of a link with Fabry's disease. Alterations of the extremities have been reported in this disease, including palmar erythema and a bluish discoloration of the palms due to dilatation of the superficial veins. Only two cases of livedo have been published. Acrosteolysis has never been documented in Fabry's disease, and its presence must be confirmed in further cases. The diagnosis of heterozygous Fabry's disease in these 2 girls was confirmed by the finding of ceramide trihexoside in urine and by leucocyte alpha-galactosidase levels that were 25 to 30 p. 100 of values obtained in controls. A study of the family of one of the girls showed that the father was involved; this hemizygous type of the disease with a 10 p. 100 alphagalactosidase level was totally asymptomatic.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease]. 164 27

Inspection of the skin in its entirety often turns up initial and orientating symptoms allowing the early detection of internal disorders. For example, the painful ulcerations of pyoderma gangrenosum can provide clues as to the presence of underlying inflammatory bowel or joint or hematologic disturbances. Extremely painful ulcerations with livedoid bleeding located on the lower limbs are indicative of calciphylaxis as a serious complication of terminal renal failure. Periorificial and migratory necrolytic erythema may signal a glucagon-producing carcinoma of the pancreatic islet cells. Pasty, whitish-yellow papules on the face associated with a tendency for developing petechiae may be a manifestation of amyloidosis in a plasmacytoma. Numerous diffuse angiomas covering the body of a younger patient should prompt the physician to consider the genetic enzyme defect of alpha-galactosidase (Fabry's disease). In the case of pacemaker- or defibrillator-associated erythema, unnecessary revision of the device can be avoided if such possibilities are considered. In consultation with the dermatologist, the exact classification of symptoms, an accurate diagnostic work-up, and differential-diagnostic considerations should be undertaken with the aim of enabling early initiation of causal or stabilizing treatments.
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PMID:[Skin manifestations with internal diseases. Finding the origin]. 1238 Mar 35