December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.