angiokeratoma/bjúgur

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Efficacy of 595nm pulsed dye laser therapy for Mibelli angiokeratoma.

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OBJECTIVE To retrospectively study the clinical efficacy of 595nm pulsed dye laser therapy for Mibelli angiokeratoma. METHODS 50 cases of Mibelli angiokeratoma, from 10 to 41 year-old，were treated with the 595nm pulsed dye laser. The parameters were as follows: a wavelength of 595 nm, pulse duration

Unilateral angiokeratoma of vulva: a rare clinic entity.

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The aim of this study is to present a very rare dermatologic condition of the vulva. Angiokeratoma is a benign dilation of ectatic thin-walled blood vessels and congested capillaries in the superficial dermal layer of skin. It occurs predominantly in men and extremely rare in women. Angiokeratoma

Anderson-Fabry disease: a multiorgan disease.

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Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A. FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (Fig. 2), including the skin, kidneys, nervous system, and

Fabry disease: recognition and management of cutaneous manifestations.

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Fabry disease (angiokeratoma corporis diffusum universale) is a rare, X chromosome-linked lysosomal storage disease. The deficient enzyme, alpha-galactosidase A (alpha-gal A), is responsible for the accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs,

Generalized anhidrosis associated with Fabry's disease.

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A 28-year-old Korean man suffered from generalized acquired anhidrosis and heat intolerance that were confirmed by a sweat test. Other clinical features consistent with Fabry's disease were fever and severe pain of the lower extremities and leg edema. Although the patients lacked cutaneous

Clinical and molecular characterization of an extended family with Fabry disease.

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OBJECTIVE To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. METHODS Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

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Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria

Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.

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A 34-year-old Japanese male had leg pain, edema of the legs, hypohidrosis, whorl-like opacities of the bilateral cornea, bilateral subcapsular cataracts, and chest discomfort on exercise. He had no characteristic angiokeratomas but did have telangiectases. The electrocardiogram revealed high

Clinic-Pathologic Features and Renal Outcome of Fabry Disease: Data from a Chinese Cohort.

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BACKGROUND Fabry disease (FD) with life-threatening complications occurs as a result of organ damage in kidneys, heart, and brain. Only a few studies, especially from Asia, report their long-term outcome. METHODS In this monocentric study, patients with Fabry nephropathy confirmed by renal biopsy

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