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  • 2005-2009  (2)
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  • 1
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A 34-year-old woman presented with 2-year history of a dome-shaped papule on a well-circumscribed, thickened, port-wine stain on the left side of the chin. Squeezing on the port-wine-stain plaque revealed many comedos within dilated follicular orifices. The papule was excised and submitted for histological examination. Histopathological study showed a lobular neoplasm, comprising dilated, cystic pilosebaceous structures surrounded by fibrous stroma, bearing the characteristics of folliculosebaceous cystic hamartoma. The reported case shows that, in addition to the vascular nature, both ectodermal and mesenchymal abnormalities may be involved in port-wine stains.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Infantile systemic hyalinosis (ISH) is a very rare infantile stiff-skin syndrome characterized by extensive deposits of hyaline material in various organs, especially the skin and gingiva. Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF). Capillary morphogenesis protein-2 is an integrin-like cell surface receptor for laminins and type IV collagen, and may play a key role in cell–matrix or cell–cell interactions. We report a case of ISH in a 13-month-old Taiwanese girl who manifested progressive joint contractures, recurrent chest infections, chronic diarrhoea with severe hypoalbuminemia and ascites, gum hypertrophy, and violaceous papules and nodules over the occipital area, neck, lumbosacral and anogenital areas since birth. Skin biopsy revealed a thickened and hyalinized papillary dermis. Electron microscopy showed abundant extracellular fibrillogranular material and active fibroblasts with conspicuous Golgi complex filled with fibrillar material. Mutation analysis identified a homozygous 1073–1074insC mutation of CMG2 which had been reported in four other families and may represent a mutation hot spot.
    Type of Medium: Electronic Resource
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