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Summary Hailey–Hailey disease (HHD; OMIM 169600), is an autosomal dominantly inherited disorder characterized by suprabasal cell separation of the epidermis. Mutations in ATP2C1, which encodes the human secretory pathway Ca2+/ Mn2 ± ATPase protein 1 (hSPCA1), have been identified as the pathogenic gene of HHD without evidence of genetic heterogeneity. In this study, the ATP2C1 gene was screened in two typical Chinese pedigrees with HHD, and two specific novel mutations of the ATP2CL gene were identified. Family 1 had a 16-base deletion mutation c.1068–1083del16 and family 2 had a substitution mutation c.1982T>G (p.Met661Arg). DNA sequencing of the three descendants of the probands revealed that they all had the normal genotype, indicating that there had been no transmission of the mutation.

Volar melanotic macules are asymptomatic light-brown or tannish-grey macules usually found on the palms and/or soles of blacks, although they have also been reported on the volar surfaces of whites. Similar lesions have not been reported before in Japanese people. Since the cause is as yet unknown, it remains to be discussed whether they are a distinct entity.In this report, a 52-year-old Japanese man with volar melanotic macules is reported with the clinical and histopathological findings.A 52-year-old Japanese man presented with many light-brown macules on his bilateral soles. He had a 20-year history of tinea pedis. Histopathological examination revealed melanophages and inflammatory infiltrates in the superficial dermis. There was a slight increase in melanin granules around the acrosyringium. Fontana-Masson stain revealed a slight increase in melanin granules in the basal layer including the acrosyringium and superficial dermis. These changes corresponded with postinflammatory pigmentation.This is the first report of volar melanotic macules in Japanese people. We suggest that volar melanotic macules is not an independent entity but a clinicopathological one that includes postinflammatory pigmentation, and that the condition is the volar counterpart of mucosal melanotic macules.

Pigmentation is a characteristic clinical feature of basal cell carcinomas (BCCs) in Japanese patients. The pathogenesis of melanin pigment in pigmented BCCs is poorly understood.We have combined the techniques of morphometric analysis and electron microscopy to assess accurately the morphologic aspects of melanocytes that occurred in pigmented and non-pigmented areas of pigmented BCCs.In the pigmented areas melanocytes were not only located along the basal membrane but also interspersed between tumor cells in the central parts of the tumor nest, and had large and numerous dendrites. Those in a supra-basal location displayed some degree of degeneration due to mitochondrion and melanosome swelling. In the non-pigmented areas melanocytes were only basally located, showed fewer dendrites, and frequently showed abortive melanosomes. However, melanocytes in these two different portions were in the active state of melanogenesis and proliferation. Ultrastructural cytomorphometric analysis also showed significant differences in most of the nuclear and cell parameters including nuclear and cell area, the nuclear/cell area ratio, cell perimeter and cell form factor between these two types of melanocytes. Particularly melanocytes in the pigmented areas were twice the cell size of the latter. In addition, the melanosomes remained almost completely in the apoptotic tumor cells, and the phagocytosis of the melanosome-containing apoptotic cells by the neighboring tumor cells appeared to be followed by the formation of the melanosome complexes.These findings suggest that different populations of melanocytes are probably present in pigmented BCCs, and repeated cycles of phagocytosis of melanosome-containing apoptotic cells may represent the predominant way of forming large melanosome complexes. The present morphological observation and quantitative analysis provide a morphological basis for further studies to interpret other pathologic changes in pigmented BCCs.