KLK11-Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review
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Issued Date
2025-01-01
Resource Type
ISSN
15524825
eISSN
15524833
Scopus ID
2-s2.0-85216970526
Journal Title
American Journal of Medical Genetics, Part A
Rights Holder(s)
SCOPUS
Bibliographic Citation
American Journal of Medical Genetics, Part A (2025)
Suggested Citation
Eiumtrakul W., Wittayakornrerk S., Wongkittichote P., Nujaroen S., Pakhathirathien P., Wattanasirichaigoon D. KLK11-Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review. American Journal of Medical Genetics, Part A (2025). doi:10.1002/ajmg.a.64018 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/104256
Title
KLK11-Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review
Author's Affiliation
Corresponding Author(s)
Other Contributor(s)
Abstract
Mendelian disorders of cornification (MeDoC) are a group of heterogeneous inherited skin disorders characterized by hyperkeratosis or scaling. Clinical assessment and skin biopsy are primarily used to differentiate MeDoC from overlapping diseases, including inflammatory skin diseases, and to identify the specific type of MeDoC; however, the results can sometimes be inconclusive. We present two individuals from a family who were initially misdiagnosed with familial pityriasis rubra pilaris, however clinical exome sequencing revealed a likely pathogenic variant in KLK11, a gene recently identified to be associated with MeDoC. This study emphasizes the importance of genetic testing in dermatologic diagnosis.