angiokeratoma/edema

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

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

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 (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,

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

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

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

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

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