JOURNAL ARTICLE

Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB.

  • Published In: Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 4. P. e323 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Gong, Zhuoqing; Chen, Kai; Xu, Zhe; Yang, Zhou; Wang, Huijun; Lin, Zhimiao 3 of 3

Abstract

This article discusses a rare genetic disorder called megaconial congenital muscular dystrophy (MDCMC) that is characterized by developmental delay, muscle weakness, and elevated levels of creatine kinase. The article presents two cases of MDCMC with psoriasiform lesions, which are described as reddish, scaly skin lesions. The authors describe the clinical features, genetic variants, and histopathological findings of these cases. They also discuss the presence of mitochondrial abnormalities in both muscle and skin tissues. The article highlights the importance of recognizing skin changes in MDCMC patients and emphasizes the need for timely referrals to pediatric neurologists for effective management. [Extracted from the article]

Additional Information

  • Source:Journal of the European Academy of Dermatology & Venereology. 2024/04, Vol. 38, Issue 4, pe323
  • Document Type:Article
  • Subject Area:Consumer Health
  • Publication Date:2024
  • ISSN:0926-9959
  • DOI:10.1111/jdv.19598
  • Accession Number:176212166
  • Copyright Statement:Copyright of Journal of the European Academy of Dermatology & Venereology is the property of Wiley-Blackwell 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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