61 citations
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March 2009 in “The Journal of the American Board of Family Medicine” This article reviews current diagnostic and treatment approaches for discoid lupus erythematosus, emphasizing the importance of early treatment and photoprotection, but reports no new clinical findings.
2 citations
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January 2019 in “Skin appendage disorders” This article reports a case of frontal fibrosing alopecia in its early inflammatory stage that responded positively to intralesional steroid treatment.
1 citations
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January 2023 in “Pediatric Dermatology” This case study of a neonate with ichthyosis and ILVASC demonstrates how an interdisciplinary approach facilitated a timely genetic diagnosis and management of complications.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
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.