{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T15:40:32Z","timestamp":1778686832127,"version":"3.51.4"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5116,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary mucoepithelial dysplasia (HMD) is a multiepithelial disorder. It is transmitted as an autosomal dominant trait (McKusick: <jats:italic>Mendelian Inheritance in Man\u2014Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes<\/jats:italic>, 8th edition. Baltimore: The Johns Hopkins University Press, pp 499, 1988).<\/jats:p><jats:p>HMD is characterized by variable combinations of lesions of skin, hair, orificial mucosa, gingiva, eyes, and lungs. In some previously described patients, the corneal and pulmonary lesions were progressive and led to blindness, recurrent pneumonia, and\/or premature death. On light microscopy, the lesion is characterized by dyskeratosis and, on electron microscopy, by a paucity of gap junctions and desmosomes.<\/jats:p><jats:p>Here, we describe a new 5\u2032generation kindred in which affected individuals had the same histologic characteristics but a some\u2010what different clinical spectrum and a more benign course. HMD should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs.<\/jats:p>","DOI":"10.1002\/ajmg.1320390318","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:23:20Z","timestamp":1118546600000},"page":"338-341","source":"Crossref","is-referenced-by-count":14,"title":["New clinical aspects of hereditary mucoepithelial dysplasia"],"prefix":"10.1002","volume":"39","author":[{"given":"M. D.","family":"Urban","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Schosser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Spohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. O.","family":"Wentling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Robinow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"499","volume-title":"Mendelian.\nInheritance in Man\u2014Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_3_1","first-page":"117","article-title":"New syndrome of chronic mucocutaneous candidiasis","volume":"3","author":"Okamoto GA","year":"1977","journal-title":"Birth Defects"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(89)80033-7"},{"key":"e_1_2_1_5_1","first-page":"197","article-title":"Disorders affecting cellular communications in oral tissues: gap junctions","volume":"2","author":"Witkop CJ","year":"1980","journal-title":"Birth Defects"},{"key":"e_1_2_1_6_1","first-page":"414","article-title":"Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation","volume":"31","author":"Witkop CJ","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(78)90461-9"},{"key":"e_1_2_1_8_1","first-page":"493","article-title":"Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation","volume":"6","author":"Witkop CJ","year":"1982","journal-title":"Birth Defects"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:40:38Z","timestamp":1698028838000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1002\/ajmg.1320390318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390318","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}