UMMS Affiliation
Department of Medicine, Division of General Internal Medicine
Publication Date
2015-09-09
Document Type
Article
Disciplines
Dermatology | Molecular Biology | Skin and Connective Tissue Diseases
Abstract
Non-bullous congenital ichthyosiform erythroderma (NBCIE) is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a probrand affected by NBCIE and extended this to his consanguineous parents. Targeted capture and next-generation sequencing was performed on NBCIE associated genes in the proband and his unaffected consanguineous parents. We identified a homozygous nonsense variant c.814C > T (p.Arg272*) in ALOXE3 (NM_001165960.1) in the proband and discovered that his parents are both heterozygous carriers of the variant. The clinical manifestations of the proband's skin were consistent with NBCIE, and detailed histopathological assessment revealed epidermal bulla formation and Majocchi's granuloma. Infection with Trichophyton rubrum was confirmed by culture. The patient responded to oral terbinafine antifungal treatment. Decreased skin barrier function, such as that caused by hereditary disorders of keratinization, can increase the risk of severe cutaneous fungal infections and the formation of Majocchi's granuloma and associated alopecia. Patients with NBCIE should be alerted to the possible predisposition for developing dermatophytoses and warrant close clinical follow-up.
Rights and Permissions
© 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).
DOI of Published Version
10.3390/ijms160921791
Source
Int J Mol Sci. 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. Link to article on publisher's site
Journal/Book/Conference Title
International journal of molecular sciences
Related Resources
PubMed ID
26370990
Repository Citation
Wang, Tao; Xu, Chenchen; Zhou, Xiping; Li, Chunjia; Zhang, Hongbing; Lian, Bill Q.; Lee, Jonathan J.; Shen, Jun; Liu, Yuehua; and Lian, Christine Guo, "Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction" (2015). Open Access Articles. 2611.
https://escholarship.umassmed.edu/oapubs/2611
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Included in
Dermatology Commons, Molecular Biology Commons, Skin and Connective Tissue Diseases Commons