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Hautarzt. 2006 Dec;57(12):1067-82.

[Hereditary photodermatoses].

[Article in German]

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Department of Dermatology, University Hospital, Academische Zuikenhuis Maastricht, P. Debyelaan 25, 6202 AZ Maastricht.


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.

[Indexed for MEDLINE]

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