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ABSTRACT: Fallbericht. Es wird über ein seltenes, autosomal-dominantes Krankheitsbild bei 4 Familienmitgliedern aus 3 Generationen berichtet. Weiße
Läsionen der Gingiva und palmoplantare Hyperkeratosen wurden beobachtet und untersucht. Alle 4 Patienten zeigten klinisch
Verhornungsstörungen des Epithels der Mundschleimhaut und der palmoplantaren Epidermis. Die plantaren und gingivalen Biopsien
wiesen histopathologisch jeweils Akanthose und hyperkeratotische Verhornung des Epithels bzw. der Epidermis auf. Der Nachweis
einer epidermolytischen Hyperkeratose wurde elektronenmikroskopisch gesichert.
Diskussion. Das fokale palmoplantare und orale Mukosa-Hyperkeratose-Syndrom muss differenzialdiagnostisch von dem Jadassohn-Lewandowsky-Syndrom
und dem mit Ösophaguskarzinomen assoziierten Howel-Evans-Syndrom abgegrenzt werden.
Case report. Four members of a family in three generations are presented who were affected by a rare syndrome (mucosa hyperkeratosis syndrome).
This syndrome is characterized by autosomal-dominant inheritance, white lesions of the gingiva, and palmoplantar hyperkeratosis.
The four affected members of the family revealed an abnormal keratinization of the gingiva and palmoplantar epidermis. Biopsies
of plantar and gingival lesions histologically showed acanthosis and hyperkeratotic cornification of the epithelium. Electron
microscopy demonstrated the features of epidermolytic hyperkeratosis.
Discussion. From the differential diagnostic point of view, the mucosa hyperkeratosis syndrome has to be distinguished from the Jadassohn-Lewandowsky
syndrome and the Howel-Evans' syndrome, which is associated with esophageal carcinoma.
Schlüsselwörter Orale Epithelveränderung–Weiße Gingivaläsion–Palmoplantares Hyperkeratose-SyndromKeywords Oral epithelium alteration–White gingival lesion–Palmoplantar hyperkeratosis syndrome
Mund- Kiefer- und Gesichtschirurgie 04/2012; 5(3):202-205.
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ABSTRACT: Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features, and in particular, pathologic alterations and molecular etiology remain to be well defined. Recently we observed a German family affected by the disease in at least 3 consecutive generations. The 4 patients examined showed circumscribed and painful hyperkeratosis at the weight-bearing plantar skin since infancy, rather mild palmar hyperkeratosis, and continuous leukokeratosis confined to the maxillary and mandibulary attached gingiva. There were no nail changes, subungeal keratoses, or follicular hyperkeratosis. Light and electron microscopy of the plantar and gingival lesions revealed alterations of epidermolytic hyperkeratosis. Mutations in the known keratin genes were excluded by linkage analysis using microsatellite markers. We conclude that focal palmoplantar and gingival keratosis is a clinically distinct palmoplantar ectodermal dysplasia that is pathologically characterized by epidermolytic alterations, but is most probably not caused by a mutation in a keratin gene.
Journal of the American Academy of Dermatology 04/2005; 52(3 Pt 1):403-9. · 3.99 Impact Factor
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ABSTRACT: Langerhans cells (LCs) represent an immature population of myeloid dendritic cells (DCs). As a result of their unique Birbeck granules (BGs), langerin expression, and heterogeneous maturation process, they differ from other immature DCs. Monocyte-derived LCs (MoLCs) mimic epidermal LCs. MoLCs with characteristic BGs are generated by culturing blood-derived monocytes with granulocyte macrophage-colony stimulating factor, interleukin (IL)-4, and transforming growth factor-beta1. Here, we compare maturation-induced antigen expression and cytokine release of LCs with MoLCs. To achieve comparable cell populations, LCs and MoLCs were isolated by CD1c cell sorting, resulting in high purity. In unstimulated cells, CD40 was expressed at equal levels. After stimulation with CD40 ligand (CD40L), LCs and MoLCs acquired CD83 and increased CD86. High CD80 expression was exclusively detected in CD1c-sorted MoLCs. Human leukocyte antigen-DR and CD54 expression was found in all cell populations, however, at different intensities. CD40 triggering increased the potency of LCs and MoLCs to stimulate CD4+ T cell proliferation. Activated MoLCs released IL-12p70 and simultaneously, anti-inflammatory IL-10. The application of the Toll-like receptor ligands peptidoglycan, flagellin, and in particular, lipopolysaccharide (LPS) increased the corelease of these cytokines. LCs secreted IL-10 at a comparable level with MoLCs but failed to produce high amounts of IL-12p70 after application of danger signals. These data indicate that MoLCs as well as LCs display no maturation arrest concerning CD83 and CD86 expression. In difference to MoLCs, LCs resisted activation by CD40L and LPS in terms of IL-12 production. This shows that natural and generated LCs share similar features but differ in relevant functions.
Journal of Leukocyte Biology 10/2004; 76(3):616-22. · 4.99 Impact Factor
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Journal of the American Academy of Dermatology 04/2004; 50(3):478-9. · 3.99 Impact Factor
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ABSTRACT: There is increasing evidence that ex vivo generated Langerhans cells (LCs) cannot fully substitute for their physiological counterparts in normal epidermis when studying the immunobiology of this prototype of a tissue-residing immature dendritic cell (DC). Here, we present CD1-based magnetic-activated cell-sorting (MACS) protocols for the effective isolation of human epidermal LCs. CD1c selection yielded a homogeneous population of pure and viable HLA-DR(+)/CD1a(+) DCs, with the ultrastructural features, surface antigen expression and cytokine profile, characteristic of epidermis-resident immature LCs. The immature state and functional integrity were established by allogeneic mixed lymphocyte reactions showing a weak stimulatory capacity of freshly isolated cells and upregulation upon stimulation. Characterizing the cells in more detail, we could demonstrate for the first time that normal human LCs express CXCR4, CD40 ligand (CD40L), and Fas and Fas ligand (FasL). The observed constitutive transcription of TGF-beta suggests that the viability and immature state of epidermal LCs are maintained not only by the TGF-beta production from the microenvironment, but also in an autocrine or paracrine manner. LPS and IFN-omega stimulated the expression of the inflammatory cytokines TNF-alpha and IL-1beta, and there was secretion of IL-12p70 after CD40 ligation. Remarkably, the CD1-sorted LCs showed no loss of their Birbeck granules and CD1a expression upon culturing and no spontaneous phenotypic and functional maturation into potent antigen-presenting cells (APCs). We conclude that human epidermal LCs obtained by the CD1c cell-sorting protocol are optimal candidates with which to elucidate the properties and capabilities of immature cells and to develop immunotherapeutic vaccines.
Journal of Immunological Methods 09/2003; 279(1-2):41-53. · 2.20 Impact Factor
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ABSTRACT: Leishmania spp. suppress macrophage activity as part of their interaction with the immune system. Interferon-gamma (IFNgamma), a cytokine that participates in the activation of macrophages and the killing of intercellular parasites, induces healing of leishmaniasis. We investigated a sequence of local and systemic inflammatory cell parameters after IFNgamma therapy in a patient with chronic, localized, cutaneous leishmaniasis caused by Leishmania donovani. Histology, immunohistochemistry, polymerase chain reaction (PCR) for L. donovani, and analysis of T-cell receptor gene fragments from skin lesions as well as peripheral blood phenotyping were performed before, during, and after IFNgamma therapy. During therapy, epithelioid cell granulomas developed with a high number of lesional human leukocyte antigen (HLA) DR+ macrophages, and HLA-DR expression on monocytes increased to high counts, indicating macrophage activation. Simultaneously, T-cell receptor-beta gene-specific PCR showed a peak at 243 base pairs, indicating clonal expansion of Leishmania-reactive T lymphocytes. After therapy, PCR detected minimal residual leishmanial DNA in healing lesions, suggesting the destruction of the parasites. In conclusion, IFNgamma therapy compensates for the parasite-dependent major histocompatibility complex class II downregulation and induces healing of chronic cutaneous leishmaniasis.
American Journal of Dermatopathology 09/2002; 24(4):319-23. · 1.20 Impact Factor
