Literature DB >> 16280294

Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks.

Witold K Jacyk1.   

Abstract

Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders of cornification showing a wide spectrum of clinical phenotypes.Here, thirteen cases of a so far unreported distinct type of autosomal recessive congenital ichthyosis are described. All the skin lesions were present at birth and ten were then compatible with collodion baby. Shedding of the collodion led to an ichthyotic condition with a very characteristic distribution of the lesions which involved the trunk, the most proximal parts of the upper limbs, scalp and neck but spared the central face and extremities. The term "bathing-suit" ichthyosis is suggested for this unusual phenotype of lamellar ichthyosis.

Entities:  

Mesh:

Year:  2005        PMID: 16280294

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  6 in total

1.  Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Authors:  Nareh V Marukian; Rong-Hua Hu; Brittany G Craiglow; Leonard M Milstone; Jing Zhou; Amy Theos; Hande Kaymakcalan; Deniz A Akkaya; Jouni J Uitto; Hassan Vahidnezhad; Leila Youssefian; Susan J Bayliss; Amy S Paller; Lynn M Boyden; Keith A Choate
Journal:  JAMA Dermatol       Date:  2017-06-01       Impact factor: 10.282

Review 2.  Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Authors:  Matthew L Herman; Sharifeh Farasat; Peter J Steinbach; Ming-Hui Wei; Ousmane Toure; Philip Fleckman; Patrick Blake; Sherri J Bale; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

3.  [The ichthyoses. Pathophysiological models of epidermal differentiation].

Authors:  D Hohl; M Huber
Journal:  Hautarzt       Date:  2013-01       Impact factor: 0.751

4.  Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.

Authors:  Naomi Tani; Nanako Yamada; Tetsuya Okazaki; Takashi Horie; Hajime Nakano; Daisuke Sawamura; Osamu Yamamoto
Journal:  Acta Derm Venereol       Date:  2020-10-06       Impact factor: 3.875

Review 5.  Recent advances in understanding ichthyosis pathogenesis.

Authors:  Nareh V Marukian; Keith A Choate
Journal:  F1000Res       Date:  2016-06-24

6.  Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.

Authors:  Dharshini Sathishkumar; Dincy Peter; Susanne Pulimood; Henning Wiegmann; Frederic Valentin; Meera Thomas; Hans Christian Hennies; Vinzenz Oji
Journal:  Case Rep Dermatol Med       Date:  2018-12-30
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.