{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:06Z","timestamp":1791894186344,"version":"4.3.4"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,30]],"date-time":"2013-01-30T00:00:00Z","timestamp":1359504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Pachyonychia Congenita Project"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Numerous therapeutic modalities have been proposed to treat the manifestations of pachyonychia congenita (<jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content>). While research hopes lie with molecular therapies, patients are in need of answers regarding the efficacy of conventional treatments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim of the study<\/jats:title><jats:p>To determine patients' experience and preferences regarding conventional treatments for <jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study population included 120 <jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content> patients from 20 countries. The study was based on a patient survey developed by physicians and researchers from the International Pachyonychia Congenita Consortium and conducted via the internet. Using an effectiveness scale of 1 to 5, the patients were asked to grade treatments for different manifestations, including keratoderma, cysts, follicular hyperkeratosis, fingernail and toenail involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients reported surgical treatments being most effective for cysts and mechanical treatments the most effective conventional therapeutic approach for all other investigated manifestations. The other conventional medical treatments were found to be non\u2010effective to only slightly effective. Among patients with keratoderma, older people were more likely to report beneficial effect from mechanical treatments (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.04), topical retinoids (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.04) and topical steroids (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.02). Likewise, females were more inclined to report filing and grinding beneficial than males (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.02). Finally, carriers of <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>16<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6a<\/jats:italic> were more likely to benefit from keratolytics than carriers of mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>17<\/jats:italic> (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.04).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>None of the currently available therapeutic options for <jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content> are ideal, although they provide some relief, with mechanical\/surgical options being preferred over medical therapies. These results emphasize the need for more efficient and targeted therapies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.12098","type":"journal-article","created":{"date-parts":[[2013,1,30]],"date-time":"2013-01-30T11:29:02Z","timestamp":1359545342000},"page":"279-285","source":"Crossref","is-referenced-by-count":46,"title":["Best treatment practices for pachyonychia congenita"],"prefix":"10.1111","volume":"28","author":[{"given":"I.","family":"Goldberg","sequence":"first","affiliation":[{"name":"Department of Dermatology Tel\u2010Aviv Sourasky Medical Center Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Fruchter","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel\u2010Aviv Sourasky Medical Center Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Meilick","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel\u2010Aviv Sourasky Medical Center Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Pachyonychia Congenita Project Salt Lake City, UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Sprecher","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel\u2010Aviv Sourasky Medical Center Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.12.009"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.59"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1087-0024.2005.10205.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr379"},{"key":"e_1_2_6_6_1","first-page":"2180","article-title":"Zur Kasuistic der kongenitalen onchogryphosis [on the causes of congenital onychogryposis]","volume":"49","author":"Muller C","year":"1904","journal-title":"Muenchener Medizinische Wochenschrift"},{"key":"e_1_2_6_7_1","first-page":"13","article-title":"Three cases of hereditary hyperkeratosis of the nail\u2010bed","volume":"17","author":"Wilson AG","year":"1904","journal-title":"Br J Dermatol"},{"key":"e_1_2_6_8_1","first-page":"29","volume-title":"Ikonographia Dermatologica","author":"Jadassohn J","year":"1906"},{"key":"e_1_2_6_9_1","first-page":"174","article-title":"Ueber pachyonychia congenita (typus Riehl)[on pachyonychia congenita (Riehl type)]","volume":"48","author":"Kumer L","year":"1935","journal-title":"Wien Klin Wochenschr"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.02.003"},{"key":"e_1_2_6_11_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Smith FJD","year":"2006"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09927.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.44"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701060"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2008.04.003"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.07.008"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.41"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1087-0024.2005.10203.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09755.x"},{"key":"e_1_2_6_20_1","first-page":"145","article-title":"[Pachyonychia congenita. 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