JOURNAL ARTICLE

Identification of a novel variant of LAMB3 in a patient with a distinct junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome phenotype.

  • Published In: Clinical & Experimental Dermatology, 2025, v. 50, n. 2. P. 500 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Suvarnakar, Aashka; Kahn, Michelle Schwartz; Derrick, Kristina M; Kabir, Soodeh; Glick, Sharon A 3 of 3

Abstract

The article discusses the case of a 4-month-old girl of Punjabi-Pakistani descent with a rare form of junctional epidermolysis bullosa (JEB) known as laryngo-onycho-cutaneous (LOC) syndrome. The patient presented with erosions, blisters, and nail dystrophy, with a homozygous variant in the LAMB3 gene identified through genetic testing. The study highlights the genetic heterogeneity of JEB and LOC subtypes, emphasizing the importance of precise molecular diagnostics for patient management. The identification of this novel variant contributes to the understanding of the variable genotype-phenotype spectrum of JEB and LOC, potentially guiding future treatment developments. [Extracted from the article]

Additional Information

  • Source:Clinical & Experimental Dermatology. 2025/02, Vol. 50, Issue 2, p500
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:0307-6938
  • DOI:10.1093/ced/llae403
  • Accession Number:182905059
  • Copyright Statement:Copyright of Clinical & Experimental Dermatology is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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