Angiokeratoma Corporis Diffusum (Fabry's Syndrome)

Abstract

Five cases with angiokeratoma corporis diffusum (Fabry's syndrome) are described. The characteristic clinical features and skin rash were seen in four cases, and the familial tendency is illustrated since the cases included two pairs of brothers. A characteristic renal lesion is seen histologically in the disorder, and was demonstrated in three of the five cases; it is probably a constant finding, and was in fact the means of making the diagnosis in one case.The clinical and histological features are discussed in the hope that the diagnosis may be made more frequently.

Angiokeratoma corporis diffusum. Some clinical aspects.

“…Histological studies using an electron microscope showed the presence of 'myelin figures', resembling those found in Tay-Sachs' disease (Hashimoto, Gross, and Lever, 1965;Frost, Tanaka, and Spaeth, 1966). Hashimoto and his colleagues, therefore, suggested that the defect was in the lysosomal enzymes affecting phospholipoprotein metabolism.…”

Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy

“…Furthermore, the histological characteristics were also suggestive of hyperplasia rather than adenoma or neoplasia. An acromegaly-like condition is extremely rare in Fabry disease in which growth hormone-releasing hormone-producing tumors have not been reported [9,26]. We speculate that the acromegaly-like condition in our present case was associated with some alterations of the growth hormone regulation pathway and/or vasculopathy in the pituitary gland-hypothalamus axis or in the target organs of growth hormone action (striated muscle, bone, etc.).…”

“…However, no pituitary adenoma was detected at the time of autopsy. In rare instances, an acromegaly-like condition has been reported without follow-up detailed postmortem examination [5,9,10,26].…”

Gut Lesions in Fabry's Disease Without a Rash

“…Hamburger et al (1964) described a mother and son with familial nephropathy, renal biopsy changes compatible with Fabry's disease, and tortuous retinal vessels, but no rash. Kemp (1967) Fone andKing (1964). Clarke et al (1971) presented two unrelated adults with changes of Fabry's disease on renal biopsy, excess ceramide tri-and dihexoside in the urine, and deficient leucocyte a-galactosidase activity.…”

“…Wise et al (1962) considered that, in the majority and perhaps all cases, the rash appeared before the age of 10 years, quoting two cases in which the rash appeared in infancy, and that systemic symptoms without a rash were rare. To ascertain the correlation between the age of onset of symptoms and the presence or absence of a rash at a stated age, 26 patients in whom these two ages were mentioned were collected from the literature (Curry and Fleisher, 1961;Wise et al, 1962;Fone and King, 1964;Dempsey et al, 1965;Rae, Lee, and Hopper, 1967;Johnston et al, 1968;Loeb et al, 1968). This method is subject to obvious limitations.…”