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  1. Article ; Online: Gonadal and gonadosomatic mosaicism in NF1: report of two families.

    Seidl-Philipp, Magdalena / Veyt, Nathalie / Schnaiter, Simon / Krogsdam, Anne / Schwendinger, Simon / Maertens, Ophélia / Fauth, Christine / Schmuth, Matthias / Legius, Eric / Wimmer, Katharina / Brems, Hilde

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2024  Volume 22, Issue 3, Page(s) 426–428

    MeSH term(s) Humans ; Mosaicism ; Neurofibromatosis 1
    Language English
    Publishing date 2024-01-07
    Publishing country Germany
    Document type Letter
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.15302
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Gonadales und gonadosomatisches Neurofibromatose-Typ-1-Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.

    Seidl-Philipp, Magdalena / Veyt, Nathalie / Schnaiter, Simon / Krogsdam, Anne / Schwendinger, Simon / Maertens, Ophélia / Fauth, Christine / Schmuth, Matthias / Legius, Eric / Wimmer, Katharina / Brems, Hilde

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2024  Volume 22, Issue 3, Page(s) 426–429

    MeSH term(s) Humans ; Mosaicism ; Neurofibromatoses
    Language English
    Publishing date 2024-03-06
    Publishing country Germany
    Document type Letter
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.15302_g
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6148: Show issues Location:
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  3. Article ; Online: A case of a migrant.

    Moosbrugger-Martinz, Verena / Seidl-Philipp, Magdalena / Kitchen, Maria / Schmuth, Matthias

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 11, Page(s) 1328–1330

    MeSH term(s) Humans ; Transients and Migrants
    Language English
    Publishing date 2020-11-05
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14325
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: [No title information]

    Moosbrugger-Martinz, Verena / Seidl-Philipp, Magdalena / Kitchen, Maria / Schmuth, Matthias

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 11, Page(s) 1328–1330

    Title translation Der Fall eines Migranten.
    Language German
    Publishing date 2020-11-30
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14325_g
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Bekanntes und Neues zum Basalzellkarzinom.

    Seidl-Philipp, Magdalena / Frischhut, Nina / Höllweger, Nicole / Schmuth, Matthias / Nguyen, Van Anh

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2021  Volume 19, Issue 7, Page(s) 1021–1043

    Language English
    Publishing date 2021-05-24
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14580_g
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Known and new facts on basal cell carcinoma.

    Seidl-Philipp, Magdalena / Frischhut, Nina / Höllweger, Nicole / Schmuth, Matthias / Nguyen, Van Anh

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2021  Volume 19, Issue 7, Page(s) 1021–1041

    Abstract: Basal cell carcinoma (BCC) is the most common malignant tumor in light-skinned people and amounts to about 75 % of all cases of skin cancer. Increasing incidence rates have been reported for decades all over the world. The main risk factors include UV ... ...

    Abstract Basal cell carcinoma (BCC) is the most common malignant tumor in light-skinned people and amounts to about 75 % of all cases of skin cancer. Increasing incidence rates have been reported for decades all over the world. The main risk factors include UV radiation, male sex, light skin type, advanced age, long-term immunosuppression, a positive individual or family history, and certain genodermatoses. BCC metastasizes only rarely, and its mortality is low, but it is associated with significant morbidity. Genetic mutations especially in the hedgehog pathway play an important role in BCC pathogenesis. Non-invasive procedures such as optical coherence tomography or confocal laser scan microscopy are increasingly utilized for diagnostics in addition to visual inspection and dermatoscopy, but only in exceptional cases can histological confirmation of the diagnosis be dispensed with. Various clinical and histological subtypes have been defined. Differentiating between BCC with high and low risk of recurrence has a significant influence on the choice of treatment. Most BCC can be treated effectively and safely with standard surgery, or in selected cases with topical treatment. Locally advanced and metastasized BCC must be treated with radiation or systemic therapy. Radiation is also an option for older patients with contraindications for surgery. The hedgehog inhibitors vismodegib and sonidegib are currently approved for systemic therapy of BCC in Europe. Approval for the PD1 inhibitor cemiplimab as second-line therapy is expected in the near future.
    MeSH term(s) Anilides/therapeutic use ; Antineoplastic Agents/therapeutic use ; Carcinoma, Basal Cell/drug therapy ; Carcinoma, Basal Cell/therapy ; Hedgehog Proteins ; Humans ; Male ; Neoplasm Recurrence, Local ; Skin Neoplasms/drug therapy ; Skin Neoplasms/therapy
    Chemical Substances Anilides ; Antineoplastic Agents ; Hedgehog Proteins
    Language English
    Publishing date 2021-07-21
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14580
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Laser-assisted epicutaneous immunization to target human skin dendritic cells.

    Tripp, Christoph H / Voit, Hermann / An, Angela / Seidl-Philipp, Magdalena / Krapf, Johanna / Sigl, Stephan / Romani, Nikolaus / Del Frari, Barbara / Stoitzner, Patrizia

    Experimental dermatology

    2021  Volume 30, Issue 9, Page(s) 1279–1289

    Abstract: Dendritic cells (DC) are promising targets for immunotherapy of cancer. Clinically, immunization against cancer antigens by means of the most potent antigen-presenting cells, that is DC, remains an important treatment option in combination with the ... ...

    Abstract Dendritic cells (DC) are promising targets for immunotherapy of cancer. Clinically, immunization against cancer antigens by means of the most potent antigen-presenting cells, that is DC, remains an important treatment option in combination with the modern immune checkpoint approaches. Instead of adoptively transferring in vitro monocyte-derived DC, they can also be loaded in situ by antibody-mediated targeting of antigen. Conventionally, these vaccines are delivered by classical intradermal injections. Here, we tested an alternative approach, namely laser-assisted epicutaneous immunization. With an infrared laser ("Precise Laser Epidermal System"/P.L.E.A.S.E.
    MeSH term(s) Administration, Cutaneous ; Adult ; Aged ; Antibodies/immunology ; Antigens, CD/immunology ; Dendritic Cells/immunology ; Female ; Humans ; Immunization/methods ; Langerhans Cells/immunology ; Lasers ; Lectins, C-Type/immunology ; Male ; Minor Histocompatibility Antigens/immunology ; Receptors, Cell Surface/immunology ; Young Adult
    Chemical Substances Antibodies ; Antigens, CD ; DEC-205 receptor ; Lectins, C-Type ; Minor Histocompatibility Antigens ; Receptors, Cell Surface
    Language English
    Publishing date 2021-05-03
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1130936-2
    ISSN 1600-0625 ; 0906-6705
    ISSN (online) 1600-0625
    ISSN 0906-6705
    DOI 10.1111/exd.14346
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3508: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  8. Article ; Online: Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

    Seidl-Philipp, Magdalena / Schossig, Anna Sarah / Moosbrugger-Martinz, Verena / Zschocke, Johannes / Schmuth, Matthias / Gruber, Robert

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2019  Volume 17, Issue 7, Page(s) 742–745

    MeSH term(s) Adult ; Austria ; Epidermis/pathology ; Epidermis/ultrastructure ; Female ; Genes, Recessive ; Humans ; Ichthyosiform Erythroderma, Congenital/genetics ; Ichthyosiform Erythroderma, Congenital/pathology ; Ichthyosis, Lamellar/genetics ; Ichthyosis, Lamellar/pathology ; Mutation, Missense ; Oxidoreductases/genetics ; Siblings
    Chemical Substances Oxidoreductases (EC 1.-) ; SDR9C7 protein, human (EC 1.-)
    Language English
    Publishing date 2019-04-23
    Publishing country Germany
    Document type Case Reports ; Letter
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.13843
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.

    Seidl-Philipp, Magdalena / Schossig, Anna Sarah / Moosbrugger-Martinz, Verena / Zschocke, Johannes / Schmuth, Matthias / Gruber, Robert

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2019  Volume 17, Issue 7, Page(s) 742–745

    Language English
    Publishing date 2019-04-09
    Publishing country Germany
    Document type Letter
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.13843_g
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: [No title information]

    Seidl-Philipp, Magdalena / Schatz, Ulrich A / Gasslitter, Irina / Moosbrugger-Martinz, Verena / Blunder, Stefan / Schossig, Anna S / Zschocke, Johannes / Schmuth, Matthias / Gruber, Robert

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 1, Page(s) 17–26

    Abstract: Hintergrund: Ichthyosen sind eine heterogene Gruppe von Krankheiten, deren klinische Klassifizierung schwierig ist. Hier wird die Ichthyosekohorte eines Expertisezentrums für Genodermatosen im Detail beschrieben.: Patienten und methodik: ... ...

    Title translation Spektrum der Ichthyosen in einer österreichischen Ichthyosekohorte von 2004-2007.
    Abstract Hintergrund: Ichthyosen sind eine heterogene Gruppe von Krankheiten, deren klinische Klassifizierung schwierig ist. Hier wird die Ichthyosekohorte eines Expertisezentrums für Genodermatosen im Detail beschrieben.
    Patienten und methodik: Eingeschlossen wurden Patienten mit klinisch oder genetisch bestätigter Ichthyose, die zwischen 2004 und 2017 untersucht und in einer Datenbank aufgenommen wurden. Krankheitsbeginn, Phänotyp, Histologie, Komorbiditäten und Familienanamnese wurden detailliert beschrieben. Bei den genetisch getesteten Patienten wurden Jahr und Methode der genetischen Testung protokolliert und die Prävalenz der unterschiedlichen Autosomal-rezessive-kongenitale Ichthyose (ARCI)-Gene und -Phänotypen, die Prävalenz der syndromalen Ichthyosen und die Genotyp-Phänotyp-Korrelationen analysiert.
    Ergebnisse und methodik: Von den insgesamt 198 eingeschlossenen Patienten wurden 151 genetisch getestet. 81 Patienten hatten eine Ichthyosis vulgaris (IV), 43 eine X-chromosomale Ichthyose (XLI), 38 eine ARCI, 9 eine keratinopathische Ichthyose (KPI) und ein Patient eine Exfoliative Ichthyose. 26 Patienten litten an einer syndromalen Ichthyose. Im Vergleich zu den syndromalen Ichthyosen wurde bei den häufigen Ichthyosen (IV, XLI) und KPI eine gute Phänotyp-Genotyp-Korrelation beobachtet. In 91 % der ARCI-Patienten konnte die exakte Diagnose durch genetische Testung gestellt werden. Lediglich bei 33 % der Patienten mit syndromaler Ichthyose bestand vor der genetischen Testung ein Verdacht auf die tatsächliche Diagnose. In 86 % der Fälle wurde eine kausale Mutation nachgewiesen.
    Schlussfolgerungen: Die Arbeit beschreibt das Spektrum der Ichthyosen an einem Expertisezentrum und zeigt, dass für diese Gruppe die genetische Testung von Genodermatosen ein diagnostischer Standard werden sollte.
    Language German
    Publishing date 2020-02-04
    Publishing country Germany
    Document type English Abstract ; Journal Article
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.13968_g
    Database MEDical Literature Analysis and Retrieval System OnLINE

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