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Hereditäre Photodermatosen

Hereditary photodermatoses

  • Leitthema
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Zusammenfassung

Hereditäre Photodermatosen sind durch eine gesteigerte Photosensitivität auf Basis eines monogen vererbten Gendefekts charakterisiert. Sie manifestieren sich mit wenigen Ausnahmen bereits im frühen Kindesalter, weisen heterogene klinische Symptome auf und sind meist schwierig zu behandeln. Trotz ihrer Seltenheit ist es wichtig, auf Basis der klinischen Symptome, spezifischer diagnostischer Untersuchungstechniken sowie der direkten DNA-Analyse zu einer verlässlichen Diagnose zu gelangen. Im vorliegenden Beitrag stellen wir verschiedene hereditäre Photodermatosen vor, darunter die Porphyria cutanea tarda, die erythropoetische Protoporphyrie, die aktinische Prurigo, das Kindler-Syndrom und Erkrankungen auf Basis eines DNA-Reparatur-Defekts wie Xeroderma pigmentosum, Trichothiodystrophie, Cockayne- und Bloom-Syndrom. Durch deren frühe Diagnose können den Komplikationen einer übermäßigen und ungeschützten Sonnenlichtexposition vorgebeugt und Familien mit einem erhöhten Risiko für hereditäre Erkrankungen mit erhöhter Photosensitivität eine humangenetische Beratung und, bei spezifischer Indikation, auch eine Pränataldiagnostik angeboten werden.

Abstract

Hereditary photodermatoses are characterized by an increased photosensitivity caused by an inherited single gene defect. With few exceptions, they manifest in early childhood, reveal heterogeneous clinical symptoms, and are difficult to treat. Although these diseases are rare, it is very important to make an accurate diagnosis on the basis of clinical symptoms, specific diagnostic tests, and direct DNA analysis. We review the spectrum of inherited photodermatoses, including porphyria cutanea tarda, erythropoietic protoporphyria, actinic prurigo, Kindler syndrome, and disorders associated with a defect in DNA repair, including xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, and Bloom syndrome. Early diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and makes it possible to offer genetic counseling and, when indicated, prenatal diagnosis to families at risk for these rare heritable disorders.

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Authors and Affiliations

  1. Department of Dermatology, University Hospital , Maastricht, Netherlands

    P. Poblete-Gutiérrez &  J. Frank

  2. Maastricht University Center for Molecular Dermatology (MUCMD), University Hospital , Maastricht, The Netherlands

    P. Poblete-Gutiérrez &  J. Frank

  3. Universitätshautklinik, Ludwig-Maximilians-Universität, München, Deutschland

    W. H. C. Burgdorf

  4. Universitätshautklinik, Albert-Ludwigs-Universität, Freiburg, Deutschland

    C. Has

  5. Universitätshautklinik, Eberhard-Karls-Universität, Tübingen, Deutschland

    M. Berneburg

  6. Porphyriezentrum, Klinik für Dermatologie und Allergologie, Universitätsklinikum, RWTH, Aachen, Deutschland

    J. Frank

  7. Afdeling Dermatologie, Academisch Ziekenhuis Maastricht, P. Debyelaan 25, Postbus 5800 , 6202 AZ , Maastricht, The Netherlands

    J. Frank

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  1. P. Poblete-Gutiérrez
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  3. C. Has
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  4. M. Berneburg
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Correspondence to J. Frank.

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Poblete-Gutiérrez, P., Burgdorf, W.H.C., Has, C. et al. Hereditäre Photodermatosen. Hautarzt 57, 1067–1082 (2006). https://doi.org/10.1007/s00105-006-1233-5

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