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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

An inherited disorder with splenomegaly, cytopenias, and vision loss.

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We describe a novel inherited disorder consisting of idiopathic massive splenomegaly, cytopenias, anhidrosis, chronic optic nerve edema, and vision loss. This disorder involves three affected patients in a single non-consanguineous Caucasian family, a mother and two daughters, who are half-sisters.

Multiple mediastinal ganglioneuromas: report of a case.

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A 23-year-old male known to have an asymptomatic mediastinal mass for four years was admitted due to progressive pitting edema of his arms and legs lasting for one week. The edema subsided prior to surgical extirpation of the left paraspinal mass. Initially recognized radiologically as a

Reflex sympathetic dystrophy syndrome in children and adolescents. Report of 18 cases and review of the literature.

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Reflex sympathetic dystrophy syndrome is a well-recognized disorder in adults, but it is rarely diagnosed in the pediatric age group. This report summarizes our experience with this condition from 1975 to 1985. We diagnosed, treated, and followed up this condition in 18 children and adolescents. The

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

[Reflex sympathetic dystrophy following electric shock: description of a clinical case].

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The acute effects of electrical injuries are well known. However, the occurrence and the mechanisms of the delayed sequelae are still unclear. The effects on peripheral nerves and the sympathetic system in particular are poorly documented. A 47-year old man was injured on the left arm by contact

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

Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.

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ROSAH syndrome was recently identified as an autosomal dominant systemic disorder due to mutations in ALPK1. It was characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. We collected and summarized the clinical data of two patients with juvenile

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

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

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To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine

Peripheral neuropathy for dermatologists: what if not diabetic neuropathy?

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BACKGROUND Patients with cutaneous manifestations associated with peripheral neuropathy often present to the dermatologist's office. OBJECTIVE This article outlines a practical approach for obtaining the history, performing a screening physical examination, and ordering initial diagnostic testing to

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