Literature DB >> 30156625

Vohwinkel syndrome: ichthyosiform variant in a family.

Clarissa Prieto Herman Reinehr1, Juliano Peruzzo2, Tania Cestari2.   

Abstract

Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.

Entities:  

Mesh:

Year:  2018        PMID: 30156625      PMCID: PMC6106675          DOI: 10.1590/abd1806-4841.20187440

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


  8 in total

1.  A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.

Authors:  J O'Driscoll; G C Muston; J A McGrath; H M Lam; J Ashworth; A M Christiano
Journal:  Clin Exp Dermatol       Date:  2002-05       Impact factor: 3.470

2.  Bilateral pseudoainhum in lamellar ichthyosis.

Authors:  Khalid Al Aboud; Khalid Al Hawsawi; V Ramesh
Journal:  Pediatr Dermatol       Date:  2004 Mar-Apr       Impact factor: 1.588

3.  Reversal of pseudo-ainhum with acitretin in Camisa's syndrome.

Authors:  Mahendra M Kura; Sumit Parsewar
Journal:  Indian J Dermatol Venereol Leprol       Date:  2014 Nov-Dec       Impact factor: 2.545

4.  Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis).

Authors:  Marcello Menta Simonsen Nico; Juliana Dumet Fernandes
Journal:  J Dtsch Dermatol Ges       Date:  2017-06       Impact factor: 5.584

5.  Vohwinkel syndrome: treatment of pseudo-ainhum.

Authors:  Franco Bassetto; Cesare Tiengo; Rossella Sferrazza; Anna Belloni-Fortina; Mauro Alaibac
Journal:  Int J Dermatol       Date:  2010-01       Impact factor: 2.736

Review 6.  Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.

Authors:  Akemi Ishida-Yamamoto
Journal:  J Dermatol Sci       Date:  2003-02       Impact factor: 4.563

7.  [Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet].

Authors:  S Dippold; F Butsch; R Schopf; A Keilmann
Journal:  HNO       Date:  2013-07       Impact factor: 1.284

8.  Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.

Authors:  Liliam Dalla Corte; Mariana Vale Scribel da Silva; Carina Flores de Oliveira; Gerson Vetoratto; Raquel Bissacotti Steglich; Josiane Borges
Journal:  An Bras Dermatol       Date:  2013 Nov-Dec       Impact factor: 1.896

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.