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- W2012611700 abstract "Sir, Although mutations in the transglutaminase (TGase) 1 gene (TGM1) have been identified in a number of families with lamellar ichthyosis (LI), genotype/phenotype correlations in LI have not yet been fully elucidated. We report a patient with a mild form of LI harbouring heterozygous TGM1 mutations (R307W and R389H). Interestingly, the patient bears the unique feature of localized ichthyotic lesions. Because this phenotype has also been found in some independent cases reported previously, further analysis may help to clarify the relationship of genotype to phenotype in LI. A 21‐year‐old Japanese man showed clinical manifestations of brown, plate‐like scales and hyperkeratosis, mainly on the ventral area of the trunk and restricted areas of the extremities (Fig. 1a,b). No abnormalities were found in other areas, although the palmoplantar skin was slightly hyperkeratotic. The patient was not the product of a consanguineous marriage, and no other family members had similar symptoms. At birth, he displayed mild erythroderma with fine scales covering the entire body. The erythroderma disappeared after early infancy, later to be replaced by brown, plate‐like scales on the ventral surface of the trunk and restricted areas of the extremities. Steroid sulphatase activity in a peripheral blood sample was normal. He had no other congenital abnormalities. Light microscopy of a skin biopsy from the left arm showed orthokeratotic hyperkeratosis, with a slightly thickened granular cell layer and mild acanthosis. Electron microscopy showed thin, electron‐dense cornified cell envelopes in the superficial granular cells (Fig. 2a,b)." @default.
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- W2012611700 date "2004-02-01" @default.
- W2012611700 modified "2023-09-26" @default.
- W2012611700 title "A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene" @default.
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- W2012611700 doi "https://doi.org/10.1111/j.1365-2133.2003.05803.x" @default.
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