Literature DB >> 28407215

Updated review of genetic reticulate pigmentary disorders.

J Zhang1, M Li1, Z Yao1.   

Abstract

Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. This updated review provides a clinical and molecular delineation of these genetic reticulate pigmentary disorders and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis, as well as to provide useful information for clinical and genetic counselling.
© 2017 British Association of Dermatologists.

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Year:  2017        PMID: 28407215     DOI: 10.1111/bjd.15575

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  7 in total

1.  Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.

Authors:  Lihi Atzmony; Theodore D Zaki; Richard J Antaya; Keith A Choate
Journal:  Am J Med Genet A       Date:  2019-09-30       Impact factor: 2.802

Review 2.  Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.

Authors:  H Alshaikh; F Alsaif; S Aldukhi
Journal:  Dermatol Res Pract       Date:  2017-10-23

3.  Novel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence.

Authors:  Maija Kiuru; Jessica R Terrell; Farzam Gorouhi; John D McPherson
Journal:  JAAD Case Rep       Date:  2020-03-26

4.  A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family.

Authors:  Sara Aldokhayel; Alballa Nouf; Aleedan Khalid; Alsaif Faisal; Alotaibi Maram; Alhumidi Ahmed; Alsaif Fahad
Journal:  JAAD Case Rep       Date:  2021-11-25

5.  Sporadic form of epidermolysis bullosa simplex with mottled pigmentation.

Authors:  Flávia Regina Ferreira; Carolina Fernandes Pereira; Juliana Carvalho Moretto; Mariana Patriota Naville
Journal:  An Bras Dermatol       Date:  2020-05-14       Impact factor: 1.896

6.  Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap?

Authors:  S Garcovich; P M Tricarico; C Nait-Meddour; G Giovanardi; K Peris; S Crovella; M Boniotto
Journal:  Br J Dermatol       Date:  2020-05-26       Impact factor: 9.302

Review 7.  Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Authors:  Michele Callea; Diego Martinelli; Francisco Cammarata-Scalisi; Chiara Grimaldi; Houweyda Jilani; Piercesare Grimaldi; Colin Eric Willoughby; Antonino Morabito
Journal:  Genes (Basel)       Date:  2022-03-11       Impact factor: 4.096

  7 in total

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