Contents
pdf Download PDF pdf Download XML
89 Views
63 Downloads
Share this article
Research Article | Volume 6 Issue 3 (None, 2012) | Pages 78 - 81
Ichthyosis bullosa of Siemens
 ,
Under a Creative Commons license
Open Access
PMID : PMC3470794
Received
Jan. 25, 2012
Published
Sept. 28, 2012
Abstract

Background:Ichthyosis bullosa of Siemens (IBS) is a rare hyperkeratotic blistering condition caused by mutations in keratin 2e gene.Main observations:This is a case of a 18-year-old female with generalized blisters, erosions and thickened skin since she was 3 months old. As she aged, there was decrease in development of blisters and erosions, with accompanying increase in severity of hyperkeratosis. Skin punch biopsy showed overlying basket weave hyperkeratosis and acanthosis, prominent vacuolization of the granular cell layer, and intraepidermal blisters with the split at the granular layer. The patient was treated with emollients, with marked improvement.Conclusions:Mutations in the different keratin genes have been shown to underlie a wide range of disorders of keratinization. Epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens are distinct disorders with mutations in different genes. Although molecular genetic testing should ideally be done for confirmation of diagnosis, ichthyosis bullosa of Siemens could be diagnosed in this patients based on key clinical characteristics.

Keywords
Recommended Articles
Case Report
Concurrent Lepra Reactions; Type 1 and Type 2 in a young male patient with borderline leprosy: Clinical and Histopathological correlation
...
Published: 02/09/2025
Original Article
Comparative Evaluation of Intralesional Corticosteroid Injection and Surgical Excision in Hypertrophic Scar Treatment
...
Published: 04/06/2022
Research Article
Efficacy of supra bioavailable itraconazole and conventional itraconazole at different dosing regimens in glabrous tinea infection
Published: 02/02/2024
Research Article
Surgical suturing-induced melanocytic nevi. A new type of eruptive melanocytic nevi?
...
Published: 30/11/2016
© Copyright Spejalisci Dermatolodzy