Literature DB >> 26945534

Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".

Tomo Sakiyama1, Akiharu Kubo1.   

Abstract

Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.
© 2016 Japanese Dermatological Association.

Entities:  

Keywords:  diffuse; focal; punctate; striate; transgrediens

Mesh:

Year:  2016        PMID: 26945534     DOI: 10.1111/1346-8138.13219

Source DB:  PubMed          Journal:  J Dermatol        ISSN: 0385-2407            Impact factor:   4.005


  12 in total

1.  Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.

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Journal:  Genes Genomics       Date:  2018-05-02       Impact factor: 1.839

2.  Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.

Authors:  Cherine Charfeddine; Hamza Dallali; Ghaith Abdessalem; Kais Ghedira; Yosr Hamdi; Sahar Elouej; Zied Landoulsi; Valérie Delague; Arnaud Lagarde; Nicolas Levy; Aziz El-Amraoui; Mohamed Samir Boubaker; Sonia Abdelhak; Mourad Mokni
Journal:  J Hum Genet       Date:  2020-01-07       Impact factor: 3.172

3.  Secreted Ly-6/uPAR-related protein-1 (SLURP1) is a pro-differentiation factor that stalls G1-S transition during corneal epithelial cell cycle progression.

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Journal:  Open Heart       Date:  2016-11-22

5.  Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Authors:  Takuya Takeichi; Antonio Torrelo; John Y W Lee; Yusuke Ohno; María Luisa Lozano; Akio Kihara; Lu Liu; Yuka Yasuda; Junko Ishikawa; Takatoshi Murase; Ana Belén Rodrigo; Pablo Fernández-Crehuet; Yoichiro Toi; Jemima Mellerio; José Rivera; Vicente Vicente; David P Kelsell; Yutaka Nishimura; Yusuke Okuno; Daiei Kojima; Yasushi Ogawa; Kazumitsu Sugiura; Michael A Simpson; W H Irwin McLean; Masashi Akiyama; John A McGrath
Journal:  J Invest Dermatol       Date:  2017-07-31       Impact factor: 8.551

6.  Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Authors:  Abida Akbar; Claire Prince; Chloe Payne; James Fasham; Wasim Ahmad; Emma L Baple; Andrew H Crosby; Gaurav V Harlalka; Asma Gul
Journal:  BMC Med Genet       Date:  2019-08-23       Impact factor: 2.103

7.  Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.

Authors:  Sabrina Caporali; Biagio Didona; Mauro Paradisi; Alessandro Mauriello; Elena Campione; Mattia Falconi; Federico Iacovelli; Marilena Minieri; Massimo Pieri; Sergio Bernardini; Alessandro Terrinoni
Journal:  Int J Mol Sci       Date:  2021-06-27       Impact factor: 5.923

8.  Unilateral Palmar Callus and Irritant Hand Eczema - Underreported Signs of Dependency on Crutches.

Authors:  Uwe Wollina; Birgit Heinig; Georgi Tchernev; Katlein França; Torello Lotti
Journal:  Open Access Maced J Med Sci       Date:  2018-01-10

9.  Bilateral sole hyperkeratosis and nonhealing foot mass.

Authors:  Samantha L Schneider; Ellen N Pritchett; Pranita V Rambhatla
Journal:  JAAD Case Rep       Date:  2018-03-30

10.  Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.

Authors:  Bertrand Favre; Nadja Begré; Jamal-Eddine Bouameur; Prakash Lingasamy; Gloria M Conover; Lionel Fontao; Luca Borradori
Journal:  PLoS One       Date:  2018-10-04       Impact factor: 3.240

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