Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in <i>KRT16</i>-Reference-Cited by-全球学者库

Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in KRT16

Published:2024-01-03 Issue: Volume: Page:
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Nanda Arti¹^ORCID,Chang Yi-Han²,Cheng Hui-Ching²,Lai I-Tzu²,Al-Lafi Atlal¹,McGrath John A²³^ORCID,Hsu Chao-Kai²⁴⁵^ORCID

Affiliation:

1. As’ad Al-Hamad Dermatology Center , Kuwait

2. Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan, Taiwan

3. St John’s Institute of Dermatology, School of Basic and Medical Biosciences, King’s College London , London, UK

4. International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University , Tainan, Taiwan

5. Institute of Clinical Medicine, College of Medicine, National Cheng Kung University , Tainan, Taiwan

Abstract

In the present study, we report a consanguineous Kuwaiti pedigree with pseudo-dominant inheritance of a recessive KRT16 variant in which homozygotes had focal non-epidermolytic palmoplantar keratoderma accompanied by ragged periungual hyperkeratosis. The key value of this submission is that we believe we have identified the first autosomal recessive inherited skin disorder resulting from pathogenic variants in the keratin 16 gene, KRT16. Our findings expand both the genetic basis and phenotypic expression of inherited KRT16-related disorders.

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljae001/54945713/ljae001.pdf