Literature DB >> 24346896

Mosaic epidermolytic ichthyosis--case report.

Marcela Sena Teixeira Mendes1, Samara Silva Kouzak1, Thaissa Araújo Aquino1, Gustavo Henrique Soares Takano2, Antonio de Padua Lima3.   

Abstract

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

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Year:  2013        PMID: 24346896      PMCID: PMC3876022          DOI: 10.1590/abd1806-4841.20132203

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  9 in total

Review 1.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Authors:  Vinzenz Oji; Gianluca Tadini; Masashi Akiyama; Claudine Blanchet Bardon; Christine Bodemer; Emmanuelle Bourrat; Philippe Coudiere; John J DiGiovanna; Peter Elias; Judith Fischer; Philip Fleckman; Michal Gina; John Harper; Takashi Hashimoto; Ingrid Hausser; Hans Christian Hennies; Daniel Hohl; Alain Hovnanian; Akemi Ishida-Yamamoto; Witold K Jacyk; Sancy Leachman; Irene Leigh; Juliette Mazereeuw-Hautier; Leonard Milstone; Fanny Morice-Picard; Amy S Paller; Gabriele Richard; Matthias Schmuth; Hiroshi Shimizu; Eli Sprecher; Maurice Van Steensel; Alain Taïeb; Jorge R Toro; Pierre Vabres; Anders Vahlquist; Mary Williams; Heiko Traupe
Journal:  J Am Acad Dermatol       Date:  2010-10       Impact factor: 11.527

2.  Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids.

Authors:  Priscila Wolf Nassif; Sadamitsu Nakandakari; Letícia Fogagnolo; Letícia Arsie Contin; Cinthia Janine Meira Alves
Journal:  An Bras Dermatol       Date:  2011 Jul-Aug       Impact factor: 1.896

Review 3.  Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.

Authors:  Nicole L Lacz; Robert A Schwartz; George Kihiczak
Journal:  Int J Dermatol       Date:  2005-01       Impact factor: 2.736

4.  Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis.

Authors:  Maryam Akhyani; Katrin Kiavash; Kambiz Kamyab
Journal:  Int J Dermatol       Date:  2009-02       Impact factor: 2.736

5.  A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue.

Authors:  A Umekoji; K Fukai; M Ishii
Journal:  Clin Exp Dermatol       Date:  2008-05-21       Impact factor: 3.470

6.  Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets.

Authors:  Ekramy A el-Khateeb
Journal:  Pediatr Dermatol       Date:  2008 Mar-Apr       Impact factor: 1.588

7.  Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.

Authors:  Paulo Morais; Alberto Mota; Teresa Baudrier; José Manuel Lopes; Rita Cerqueira; Purificação Tavares; Filomena Azevedo
Journal:  Eur J Dermatol       Date:  2009-05-14       Impact factor: 3.328

Review 8.  Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.

Authors:  Rustin Ross; John J DiGiovanna; Laura Capaldi; Zsolt Argenyi; Philip Fleckman; Leslie Robinson-Bostom
Journal:  J Am Acad Dermatol       Date:  2008-07       Impact factor: 11.527

9.  A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.

Authors:  Reuven Bergman; Ziad Khamaysi; Eli Sprecher
Journal:  Am J Dermatopathol       Date:  2008-04       Impact factor: 1.533

  9 in total
  3 in total

1.  Epidermolytic Hyperkeratosis--case report.

Authors:  Marcos Takeyoshi Hayashida; Grasiela Lissa Mitsui; Natalia Ivanoff dos Reis; Giovana Fantinato; Domingos Jordão Neto; Ana Maria da Cunha Mercante
Journal:  An Bras Dermatol       Date:  2015 Nov-Dec       Impact factor: 1.896

2.  Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris.

Authors:  Hayley Leight; Zachary Zinn; Omid Jalali
Journal:  Clin Cosmet Investig Dermatol       Date:  2015-09-15

3.  Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis.

Authors:  Keshavmurthy A Adya; Arun C Inamadar; Ajit B Janagond; Aparna Palit
Journal:  Indian Dermatol Online J       Date:  2020-03-09
  3 in total

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