61 citations
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April 1980 in “Journal of the American Academy of Dermatology” This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” This case report describes a 10-year-old girl with lamellar ichthyosis who showed marked improvement in scaling and skin stiffness after six weeks of treatment with emollient and supportive therapy.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
66 citations
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January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.