In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.
11 citations
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November 2012 in “Seminars in Cutaneous Medicine and Surgery” This review summarizes current understanding and genetic insights into androgenetic alopecia, female pattern hair loss, and alopecia areata, noting the potential future role of molecular diagnostics, but it reports no new clinical results.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” This study found that cataracts, hair changes, short stature, and low bodyweight are key indicators for diagnosing Werner syndrome in patients under 30, differing from older age group symptoms.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
January 2018 in “Murdoch Research Repository (Murdoch University)” This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.