16 citations
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March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
15 citations
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October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
July 2026 in “Clinical Cosmetic and Investigational Dermatology” In this case report, a 9-year-old boy with Sjogren-Larsson syndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.
1 citations
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January 1999 in “Dermatology”