Seven unrelated patients with atypical variants of hemizygous Fabry's disease were found among 230 men with left ventricular hypertrophy (3 percent). Fabry's disease should be considered as a cause of unexplained left ventricular hypertrophy.

The clinical spectrum of Fabry disease includes a "renal variant" phenotype in patients without classic symptoms who develop ESRD. Affected males undergoing hemodialysis or renal transplantation can be readily diagnosed by plasma alpha-Gal A assays. These patients and their family members may benefit from enzyme replacement therapy for the later, life-threatening cardiovascular and cerebrovascular complications of Fabry disease.

Severe left ventricular dysfunction with associated conduction disturbances and ventricular arrhythmias occur in patients with terminal stage cardiac Fabry disease. Furthermore, LVH is present and associated with thinning of the base of the left ventricular posterior wall. In contrast to typical Fabry disease, accumulation of glycosphingolipids was observed in myocardial cells but not in other organs.

By removing connective tissue components with enzymatic digestion followed by HCl-hydrolysis, myoepithelial cells (MECs) of the terminal portion in a variety of exocrine glands of the rat were examined with the scanning electron microscope. The profile of MECs varied considerably from gland to gland; MECs in the lactating mammary gland have a few long cytoplasmic processes in close contact with those of adjacent cells forming a continuous network around the terminal portion. Those of the exorbital lacrimal gland are stellate with many thin radiating processes with tapered ends that terminate freely. MECs in the sublingual gland are characterized by a number of broad and extensive cellular processes. MECs in the submandibular gland are similar in appearance to those of the exorbital lacrimal gland, but with more extensive cellular processes that form a more or less continuous network with those of the adjacent cells. No MECs were observed on the terminal portion of the parotid gland where the cells appear to be lodged on the intercalated duct. The relative surface area covered by MECs per terminal portion was also found to vary significantly, being 24% in the lactating mammary, 17% in the exorbital lacrimal, 48% in the sublingual, and 25% in the submandibular glands. The findings are discussed in relation to the physical properties of secretions in different glands.

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Clear cell hidradenoma of the breast is rare. A 55-year-old woman demonstrated a left breast tumor during follow-up examination of the right breast. Focal asymmetric density was shown on mammogram, and ultrasonography showed an intracystic tumor. Since the diagnosis was not clear on aspiration cytology, excisional biopsy was performed. The lesion was an intracystic tumor macroscopically. Histological examination demonstrated characteristic histological features of clear cell hidradenoma, such as proliferation of uniform epithelial cells, clear or slightly eosinophilic cytoplasm, and cuboidal cell-lined ductal structures. Immunohistochemically, these proliferating epithelial cells were negative for myoepithelial markers, such as alpha-smooth muscle actin, CD10 and anti-muscle actin, but positive for p63. These features were consistent with clear cell hidradenoma.

In this investigation, 83 human mammary carcinomas were examined for the expression of oestrogen receptor (ER), epidermal growth factor receptor (EGF-R), epidermal growth factor (EGF), transforming growth factor alpha (TGF-alpha), c-erbB-2, histological grade, mitotic index and nodal status, all of which are reportedly prognostically significant factors (Bloom and Richardson 1957; Baak et al. 1985; Wright et al. 1989). ER expression was biochemically recognized in 43.4% of mammary carcinomas, and EGF-R, EGF, TGF-alpha and c-erbB-2 were histochemically recognized in 25.3, 14.5, 27.7 and 18.0% of mammary carcinomas examined respectively, using conventional sections of buffered formalin-fixed, paraffin-embedded tissue and monoclonal or polyclonal antibodies. There were significant relationships between negative ER and positive EGF-R or TGF-alpha; positive EGF-R and TGF-alpha; positive EGF-R and c-erbB-2; and positive c-erbB-2 and TGF-alpha. The single changes which were the negative ER and the positive c-erbB-2 correlated with histological grade and mitotic index. Co-expression of EGF-R and TGF-alpha correlated with positive nodal status. Therefore, the present investigation indicates that the negative ER, single expression of c-erbB-2 and co-expression of EGF-R and TGF-alpha are important markers which contribute indirectly to prognosis, which reconfirms previous findings on the former two while adding the new finding that immunohistochemical demonstration of expression of EGF-R and TGF-alpha may provide useful information for selecting the appropriate treatment.

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