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SM ISO690:2012 BEŢIU, Mircea, CARAMAN, Daria, ŢÂBÂRNĂ, Vasile, STURZA, Vasile, GOGU, Vladislav, IACOVLEV, Irina, SOVGUR, V.. Lamellar ichthyosis – case report. In: Perspectives of the Balkan medicine in the post COVID-19 era: The 37th Balkan Medical Week. The 8th congress on urology, dialysis and kidney transplant from the Republic of Moldova “New Horizons in Urology”, Ed. 37, 7-9 iunie 2023, Chişinău. București: Balkan Medical Union, 2023, Ediția 37, p. 98. ISSN Print: ISSN 1584-9244 ISSN-L 1584-9244 Online: ISSN 2558-815X. |
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Perspectives of the Balkan medicine in the post COVID-19 era Ediția 37, 2023 |
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Congresul "Perspectives of the Balkan medicine in the post COVID-19 era" 37, Chişinău, Moldova, 7-9 iunie 2023 | ||||||
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Introduction. Lamellar ichthyosis (LI) is an autosomal-recessive disorder that appears at birth, affecting around 1 in 600.000 people, and the newborn usually is encased in a collodion membrane, eventually with a red skin. Over time, the skin develops large, brown plate-like scales, which appear to be arranged in a mosaic pattern, associated with scarring alopecia and ectropion. Histopathologic examination shows orthokeratotic hyperkeratosis with mild to moderate acanthosis. Immuno-histochemistry reveals antibodies directed against transglutaminase 1 (TGM1) or transglutaminase 1 enzyme activity. Case presentation. A 19 years-old patient was born in a collodion membrane, a shiny, waxy-appearing outer layer to the skin. This was shed 2 weeks after birth, revealing the main symptoms of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling was tending to be concentrated around the joints in areas such as the groin, the armpits, the elbow and the neck. The patient also was suffering from low degree of myopia and osteocartilaginous exostosis of the right femoral bone, for which was advised with a surgical intervention. The treatment regimen included systemic retinoids, such as Isotretinoin and Acitretin, that proved to be very effective, being limited in time for a potential toxicity. Conclusions. LI is a rare genetic skin disorder with no curative treatment, but the symptoms can be relieved, especially with systemic retinoids. Mutations in TGM1, the gene encoding transglutaminase 1, were founded in several families with LI, solidifying the role for knock-out transglutaminase 1 as a cause of LI. |
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