Literature DB >> 17075715

[Hereditary photodermatoses].

P Poblete-Gutiérrez1, W H C Burgdorf, C Has, M Berneburg, J Frank.   

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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Year:  2006        PMID: 17075715     DOI: 10.1007/s00105-006-1233-5

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  49 in total

1.  Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity.

Authors:  C Masutani; M Araki; A Yamada; R Kusumoto; T Nogimori; T Maekawa; S Iwai; F Hanaoka
Journal:  EMBO J       Date:  1999-06-15       Impact factor: 11.598

Review 2.  Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge.

Authors:  P Poblete Gutiérrez; O Kunitz; C Wolff; J Frank
Journal:  Skin Pharmacol Appl Skin Physiol       Date:  2001 Nov-Dec

Review 3.  The genetic bases of the porphyrias.

Authors:  J Frank; A M Christiano
Journal:  Skin Pharmacol Appl Skin Physiol       Date:  1998 Nov-Dec

4.  Bloom's syndrome. XIV. The disorder in Japan.

Authors:  J German; H Takebe
Journal:  Clin Genet       Date:  1989-02       Impact factor: 4.438

5.  Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Authors:  Florence Jobard; Bakar Bouadjar; Frédéric Caux; Smail Hadj-Rabia; Christina Has; Fumi Matsuda; Jean Weissenbach; Mark Lathrop; Jean-François Prud'homme; Judith Fischer
Journal:  Hum Mol Genet       Date:  2003-04-15       Impact factor: 6.150

6.  Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

Authors:  L Gouya; H Puy; J Lamoril; V Da Silva; B Grandchamp; Y Nordmann; J C Deybach
Journal:  Blood       Date:  1999-03-15       Impact factor: 22.113

Review 7.  Rediscovering thalidomide: a review of its mechanism of action, side effects, and potential uses.

Authors:  S Tseng; G Pak; K Washenik; M K Pomeranz; J L Shupack
Journal:  J Am Acad Dermatol       Date:  1996-12       Impact factor: 11.527

8.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12

9.  The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.

Authors:  K H Kraemer; M M Lee; A D Andrews; W C Lambert
Journal:  Arch Dermatol       Date:  1994-08

10.  [Photodermatoses during childhood].

Authors:  N J Neumann; P Lehmann
Journal:  Hautarzt       Date:  2003-01-10       Impact factor: 0.751

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  4 in total

Review 1.  [Light protection for xeroderma pigmentosum].

Authors:  M Ettinger; M Berneburg
Journal:  Hautarzt       Date:  2017-05       Impact factor: 0.751

Review 2.  Photodermatoses: diagnosis and treatment.

Authors:  Percy Lehmann; Thomas Schwarz
Journal:  Dtsch Arztebl Int       Date:  2011-03-04       Impact factor: 5.594

Review 3.  [Hair anomalies in syndromic disorders].

Authors:  J Frank; R C Betz
Journal:  Hautarzt       Date:  2019-07       Impact factor: 0.751

4.  [Genodermatoses with malignant skin tumors].

Authors:  L Hübinger; J Frank
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

  4 in total

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