{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:25:47Z","timestamp":1790695547456,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4202,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The inversa subtype of autosomal recessive dystrophic epidermolysis bullosa (EBDR\u2010I) is a rare variant characterized by lesions involving primarily the flexural areas of the body. The purpose of this investigation was to characterize the oral manifestations of this unusual dermatologic condition. Ten individuals having EBDR\u2010I were evaluated and compared with an age and sex\u2010matched population of unaffected individuals that served as controls. The diagnosis of EBDR\u2010I was confirmed by skin biopsy that demonstrated tissue separation below the lamina densa and the clinical presentation of blister formation that typically localized to flexural areas. There was clinical variability in the severity and distribution of skin involvement; however, none of the affected individuals demonstrated pronounced digital webbing, severe generalized blistering or growth retardation characteristic of the Hallopeau\u2010Siemens form of EBDR. Oral involvement was seen in all cases with ankyloglossia, loss of tongue papillae and obliteration of the oral vestibule between the lips and gingiva being typical. The oral opening was significantly reduced in older EBDR\u2010I individuals compared with matched controls, conforming that acquired microstomia is a charactorstic of EBDR\u2010I. The teeth were not clinically abnormal or malformed and showed no evidence of generalized enamel hypoplasia. Despite this, the prevalence of dental caries in EBDR\u2010I individuals was significantly higher than the control group. The inversa form of EBDR presents with oral findings that are similar but generally milder than those seen in the Hallopeau\u2010Siemens variant of EBDR. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470811","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:42:04Z","timestamp":1118508124000},"page":"1184-1188","source":"Crossref","is-referenced-by-count":28,"title":["Oral involvement of recessive dystrophic epidermolysis bullosa inversa"],"prefix":"10.1002","volume":"47","author":[{"given":"J. Timothy","family":"Wright","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u2010David","family":"Fine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loraine B.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd T.","family":"Steinmetz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1720261"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90051-Y"},{"key":"e_1_2_1_4_1","first-page":"40","volume-title":"Epidermolysis Bullosa: A Comprehensive Review of Classification, Management and Laboratory Studies","author":"Fine JD","year":"1990"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(91)70021-S"},{"key":"e_1_2_1_6_1","volume-title":"Epidermolysis Bullosa. A Clinical, Genetic and Epidemiologic Study","author":"Gedde\u2010Dahl T","year":"1971"},{"key":"e_1_2_1_7_1","first-page":"532","article-title":"Epidermolysis bullosa dystrophica inversa","volume":"27","author":"Hashimoto I","year":"1976","journal-title":"Der Hautarzt"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00567360"},{"key":"e_1_2_1_9_1","series-title":"Publication #82\u20132245","volume-title":"The Prevalence of Dental Caries in the United States Children 1979\u20131980","author":"NIDR","year":"1981"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1001\/archderm.1988.01670050086028","article-title":"Oropharyngeal lesions and their management in epidermolysis bullosa","volume":"124","author":"Nowak AJ","year":"1988","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1988.01670040046020"},{"key":"e_1_2_1_12_1","first-page":"797","article-title":"Human type VII collagen: Genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa","volume":"49","author":"Ryynanen M","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(90)90401-D"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(91)90361-F"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(91)90426-D"},{"key":"e_1_2_1_16_1","first-page":"536","article-title":"Enamel hypoplasia in the different types of hereditary epidermolysis bullosa","volume":"72","author":"Wright JT","year":"1992","journal-title":"J Dent Res"},{"key":"e_1_2_1_17_1","first-page":"242","article-title":"Hereditary epidermolysis bullosa: Oral manifestations and dental management","volume":"15","author":"Wright JT","year":"1993","journal-title":"Pediatr Dent"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470811","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T01:51:33Z","timestamp":1698198693000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,12]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1993,12]]}},"alternative-id":["10.1002\/ajmg.1320470811"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470811","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,12]]}}}