January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
6 citations
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February 2019 in “JAAD case reports” This case report suggests acitretin as a potential treatment for pseudoainhum, following the successful resolution of the condition in a patient with palmoplantar keratoderma and congenital alopecia.
3 citations
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September 1998 in “International Journal of Dermatology” In this case study, long-term treatment with acitretin significantly improved chronic skin conditions like erythematosquamous plaques and follicular hyperkeratoses in a patient, but stopping the treatment led to severe worsening of symptoms.