June 2026 in “British Journal of Dermatology” This case report discusses an atypical presentation of bullous pemphigoid in a young man potentially triggered by occupational chemical exposure, highlighting diagnostic challenges and effective treatment with clobetasol propionate and prednisolone, transitioning to mycophenolate mofetil.
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.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
1 citations
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September 2001 in “PubMed” This review discusses the effectiveness and risks of acitretin in treating various skin conditions, highlighting its teratogenic potential and the necessary precautions for its use.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.