{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T10:34:01Z","timestamp":1764239641182},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T00:00:00Z","timestamp":1279152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10\u2010year\u2010old girl with generalized atrichia and a severe form of PPK causing pseudo\u2010ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well\u2010defined condition. Non\u2010specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the <jats:italic>GJB2<\/jats:italic> and <jats:italic>LOR<\/jats:italic> coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK\u2010CA: (i) an autosomal dominant form (Stevanovi\u0107 type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo\u2010ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK\u2010CA. Further reports are required to test this preliminary conclusion. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33490","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T16:24:49Z","timestamp":1279211089000},"page":"2043-2047","source":"Crossref","is-referenced-by-count":15,"title":["Palmoplantar keratoderma, pseudo\u2010ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma\u2010congenital alopecia syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Valiante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Ritelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoletta","family":"Preziosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Paradisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.37060"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2002.110663"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100303"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1995.tb02720.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.1989.tb01255.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"607","DOI":"10.2340\/00015555-0547","article-title":"Sch\u00f6pf\u2010Schulz\u2010Passarge syndrome: Further delineation of the phenotype and genetic considerations","volume":"88","author":"Castori M","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.09.005"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00914.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.22217.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0791-6"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1996.d01-756.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.2165\/00128071-200809020-00009"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(98)70374-3"},{"key":"e_1_2_5_15_1","doi-asserted-by":"crossref","first-page":"146","DOI":"10.2340\/0001555551146150","article-title":"Keratosis follicularis spinulosa decalvans in a family from northern Finland","volume":"51","author":"Kuokkanen K","year":"1971","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1237"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07806.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30188"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.03.036"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07752.x"},{"key":"e_1_2_5_21_1","first-page":"176","article-title":"Clouston syndrome: A rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia","volume":"11","author":"Patel RR","year":"1991","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1981.tb00768.x"},{"key":"e_1_2_5_23_1","first-page":"36","article-title":"Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. 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