October 2023 in “Dermatology practical & conceptual” In this case report, folliculitis decalvans with frontal fibrosing alopecia was observed in a patient with a dark phototype, highlighting the phenotypic spectrum of folliculitis decalvans and lichen planopilaris.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
27 citations
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June 2015 in “Journal of Investigative Dermatology” This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
