{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T00:17:17Z","timestamp":1792628237015,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2014,12]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Bathing suit ichthyosis (\n BSI<\/jats:styled-content>\n ) is an uncommon phenotype classified as a minor variant of autosomal recessive congenital ichthyosis (\n ARCI<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n \n We report a case of\n BSI<\/jats:styled-content>\n in a 3\u2010year\u2010old\n T<\/jats:styled-content>\n unisian girl with a novel mutation of the transglutaminase 1 gene (\n \n TGM<\/jats:styled-content>\n 1\n <\/jats:italic>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Case Report<\/jats:title>\n \n This infant had been born with a collodion membrane encasing her entire body. From the age of three\u00a0months, brownish scaling was noted on the bathing suit area. Histology showed orthohyperkeratosis with acanthosis of the epidermis. The granular layer was normal, and the superficial dermis was mildly inflammatory, confirming a diagnosis of proliferating ichthyosis. Molecular analysis in the patient and her parents revealed the mutation I304F of\n \n TGM<\/jats:styled-content>\n 1\n <\/jats:italic>\n . Treatment with emollients and keratolytics partially improved the patient's skin condition.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Bathing suit ichthyosis is an uncommon phenotype unique in its topography, which involves the trunk but spares the face and extremities. Previous studies using molecular analysis have shown that\n BSI<\/jats:styled-content>\n is caused mainly by mutations in\n \n TGM1<\/jats:italic>\n <\/jats:styled-content>\n . Twenty missense mutations have been reported in\n BSI<\/jats:styled-content>\n . Of these 20 missense mutations, nine occurred only in patients with the\n BSI<\/jats:styled-content>\n phenotype and 11 were common to\n BSI<\/jats:styled-content>\n and other types of\n ARCI<\/jats:styled-content>\n . Until recently, there has been no genotype\u2010phenotype correlation. Therefore, the same mutation of the transglutaminase 1 could result in either generalized\n ARCI<\/jats:styled-content>\n or\n BSI<\/jats:styled-content>\n . The present case demonstrates this phenotype in a White Tunisian patient with a novel mutation of\n \n TGM<\/jats:styled-content>\n 1\n <\/jats:italic>\n (I304F) not previously reported in\n BSI<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ijd.12569","type":"journal-article","created":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T22:51:00Z","timestamp":1410389460000},"page":"1478-1480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Bathing suit ichthyosis caused by a\n TGM1<\/i>\n mutation in a Tunisian child"],"prefix":"10.1111","volume":"53","author":[{"given":"Rym","family":"Benmously\u2010Mlika","sequence":"first","affiliation":[{"name":"Department of Dermatology Habib Thameur Teaching Hospital Faculty of Medicine University of Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anissa","family":"Zaouak","sequence":"additional","affiliation":[{"name":"Department of Dermatology Habib Thameur Teaching Hospital Faculty of Medicine University of Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridha","family":"Mrad","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Charles Nicolle Hospital Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Laaroussi","sequence":"additional","affiliation":[{"name":"Molecular Investigation of Genetic Orphan Diseases Research Unit Pasteur Institute of Tunis Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[{"name":"Molecular Investigation of Genetic Orphan Diseases Research Unit Pasteur Institute of Tunis Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Hovnanian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Genetics CHU Necker for Sick Children University Ren\u00e9 Descartes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Insaf","family":"Mokhtar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_4_3_1","first-page":"433","article-title":"transglutaminase\u20101 mutations and genotype\u2013phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA","volume":"46","author":"Farasat S","year":"2009","journal-title":"J Med Genet"},{"key":"e_1_2_4_4_1","first-page":"1","volume-title":"Essays on Tropical Dermatology","author":"Scott F","year":"1972"},{"key":"e_1_2_4_5_1","first-page":"433","article-title":"Bathing suit ichthyosis, a peculiar phenotype of lamellar ichthyosis in South African blacks","volume":"15","author":"Jacyk WK","year":"2005","journal-title":"Eur J Dermatol"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl249"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0415"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2012.1947"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20952"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.18"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.12569","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.12569","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T04:01:17Z","timestamp":1696392077000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.12569"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,10]]},"references-count":9,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/ijd.12569"],"URL":"https:\/\/doi.org\/10.1111\/ijd.12569","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718871809.793519149","asserted-by":"object"}]},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,10]]},"assertion":[{"value":"2014-09-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}