JOURNAL ARTICLE

O02 A case for diagnosis: ectodermal dysplasia and severe myelodysplasia.

  • Published In: British Journal of Dermatology, 2023, v. 189, n. 3. P. e40 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: O'Connor, Cathal; Bourke, John 3 of 3

Abstract

The article focuses on a family presenting with a distinctive phenotype characterized by hypohidrotic ectodermal dysplasia (ED) features—such as absence of scalp and body hair, abnormal dentition, and abnormal sweating—alongside myelodysplasia. A 13-year-old girl and her affected family members underwent extensive genetic testing, including an ED gene panel, dyskeratosis congenita panel, myeloid panel, and whole-exome sequencing, none of which identified a causative mutation. All three affected individuals were found to have mosaic trisomy 18, a chromosomal anomaly not previously associated with ED and unusually transmitted across two generations. The report highlights the rarity of familial mosaic trisomy 18 and calls for further genetic insights into this unique clinical presentation.

Additional Information

  • Source:British Journal of Dermatology. 2023/09, Vol. 189, Issue 3, pe40
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2023
  • ISSN:0007-0963
  • DOI:10.1093/bjd/ljad259.002
  • Accession Number:172425491
  • Copyright Statement:Copyright of British Journal of 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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