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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK; Malden, USA : Munksgaard International Publishers
    Contact dermatitis 50 (2004), S. 0 
    ISSN: 1600-0536
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 151 (2004), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Familial cylindromatosis is a rare dominantly inherited disease characterized by the development of multiple benign tumours of the skin appendages, including cylindromas, trichoepitheliomas and spiradenomas. The gene responsible was positionally cloned recently, and was designated CYLD. We describe a family with cylindromatosis, in which affected individuals have an inherited R758X nonsense mutation of CYLD. Affected members of this family manifest a relatively mild tumour phenotype; the largest tumour was only 30 mm in diameter. Thus far, there is no evident genotype–phenotype relationship in cylindromatosis, although the number of families reported with both phenotypic and genotypic data remains small.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 148 (2003), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Netherton's syndrome (NS) is an autosomal recessive disorder characterized by trichorrhexis invaginata (‘bamboo hair’), congenital ichthyosiform erythroderma and an atopic diathesis. NS has recently been shown to be due to a defect in the SPINK5 gene, encoding LEKTI, a 15-domain serine protease inhibitor. SPINK5 maps to chromosome 5q31–q32, and has been suggested to be a locus predisposing to atopy in general. Recently, coding polymorphisms in SPINK5 exons 13 and 14 have been reported to be associated with atopy, asthma and atopic dermatitis (AD). Objectives To examine whether these polymorphisms are also associated with AD in Japan. Methods We characterized eight polymorphisms in SPINK5 exons 13 and 14 in 124 Japanese patients with AD and 110 healthy controls. The polymorphisms we examined were IVS12–26C→T, IVS12–10A→G, 1103A→G (Asn368Ser, in exon 13), 1156G→A (Asp386Asn, in exon 13), 1188T→C (His396His, in exon 13), IVS13–50G→A, 1258G→A (Glu420Lys, in exon 14) and IVS14+19G→A. Results We found significant associations between seven of these polymorphisms and AD in Japanese patients. Conclusions This study confirms the previous suggestion of an association between SPINK5 and AD.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Pemphigus is an autoimmune mucocutaneous bullous disease characterized by autoantibodies against the cell surfaces of epidermal keratinocytes. Six cases with deposition of both IgG and IgA on keratinocyte cell surfaces have been reported in the recent literature. We provisionally termed these cases IgG/IgA pemphigus. We describe a 42-year-old Japanese woman with clinical and histopathological features resembling herpetiform pemphigus who demonstrated in vivo bound and circulating anticell surface autoantibodies of both IgG and IgA classes on immunofluorescence examination. Enzyme-linked immunosorbent assay using baculovirus-expressed recombinant desmoglein (Dsg) 1 and Dsg 3 showed that both IgG and IgA antibodies reacted with Dsg1. The reactivity was completely adsorbed with preincubation of serum with Dsg1 baculoprotein, further confirming the exclusive reactivity of both IgG and IgA antibodies with Dsg1. This is the second case of IgG/IgA pemphigus in which the human target antigens for both IgG and IgA antibodies have been unequivocally identified. This study provides further evidence that IgG/IgA pemphigus is a distinct disease entity.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 142 (2000), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Localization of a locus for atopy to chromosome 16p12–p11 and reported associations of Ile50Val and Gln551Arg polymorphisms in interleukin-4 receptor α chain (IL 4R gene) with atopy prompted us to sequence the gene in 27 adult atopic dermatitis (AD) and 29 non-atopic (non-AD) subjects. Among six known polymorphisms, Gln551Arg was significantly associated with AD (P = 0·01). This polymorphism was found to be heterozygous in six of 27 patients with AD but none of the 28 non-AD controls. Ile50Val, which was previously reported to be associated with atopic asthma in Japan, showed no association with AD in our group. Glu375Ala and Cys406Arg also showed no association with AD. The IL 4R gene should thus be considered a compelling candidate gene for AD.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We report a case of acquired smooth muscle hamartoma (ASMH) of tunica dartos, believed to be only the fifth so far reported. A 24-year-old man had a 6-month history of an asymptomatic tight and thickened scrotum. The skin was difficult to pinch. A biopsy specimen from the skin showed increased and proliferated smooth-muscle bundles composed of well-differentiated and uniform spindle cells that showed typical features of acquired smooth muscle hamartoma. Interestingly, dilatations of the lymph vessels were noted in the upper dermis above the proliferated smooth muscles. It has been reported recently that long-standing severe lymphoedema may cause histological features mimicking ASMH. As the present case was not preceded by oedema of the scrotum, we consider this case to be true ASMH.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary A 62-year-old Japanese man presented with multiple small atrophic macules on the trunk and extremities. The lesions were discrete, oval in shape and enclosed by lilac ring. They were distributed in a Christmas tree distribution, reminiscent of pityriasis rosea. Skin biopsy showed increased collagen fibres in the dermis and invading subcutaneous tissue. The clinico-pathological features were consistent with guttate morphoea, a rare variant of localized scleroderma. Serological tests revealed a positive reaction to human T-cell lymphoma/lymphotropic virus type-1 infection.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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