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Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

Research output: Contribution to journalArticle

Hassan Vahidnezhad, Leila Youssefian, Soheila Sotoudeh, Lu Liu, Alyson Guy, Patricia A. Lovell, Ariana Kariminejad, Sirous Zeinali, John A. McGrath, Jouni Uitto

Original languageEnglish
Pages (from-to)906-912
Number of pages7
JournalHuman Mutation
Volume41
Issue number5
DOIs
Publication statusPublished - 1 May 2020

King's Authors

Abstract

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc (3 mg·kg−1·day−1) for the AE resulted in rapid amelioration of the skin findings. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics-guided treatment.

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