Fabry's disease (angiokeratoma corporis diffusum universale): An unusual syndrome with multisystem involvement and unique skin manifestations

Abstract

Angiokeratoma corporis diffusum universale, or Fabry's disease, is a systemic disease probably due to a hereditary defect in lipoid metabolism. The syndrome is easily recognized by its typical skin manifestations. To date all cases have occurred in males. Probably fewer than thirty cases have been recorded in the world literature. The pathological changes are widespread in the media of the blood vessels, the arteries of the kidneys showing the most pronounced changes. Vacuolization of the smooth muscle with replacement by doubly refractile bodies which, when analyzed chemically, resemble sphingomyelin in many respects but differ in solubility, is the basic defect. Similar lesions have been demonstrated in the skin, smooth muscle of the gastrointestinal tract, autonomic ganglia, reticuloendothelial cells and various endothelial cells. A characteristic cell has been found in the bone marrow and the urine. The syndrome has ophthalmologic, cardiovascular, renal, pulmonary, epidermal and gastrointestinal manifestations. Symptoms of fever, vague aching, sweating abnormalities, parasthesias, swelling of the ankles and eyes, nocturia and frequency, intolerance to heat and cold, and skin lesions may bring the condition to the attention of the physician. The syndrome may be easily recognized by knowledge of the component lesions. There is no treatment at the present time.