{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:59:35Z","timestamp":1791115175735,"version":"4.1.0"},"reference-count":9,"publisher":"FapUNIFESP (SciELO)","issue":"6 suppl 1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["An. Bras. Dermatol."],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.<\/jats:p>","DOI":"10.1590\/abd1806-4841.20132135","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T19:46:49Z","timestamp":1391111209000},"page":"206-208","source":"Crossref","is-referenced-by-count":14,"title":["Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report"],"prefix":"10.1590","volume":"88","author":[{"given":"Liliam Dalla","family":"Corte","sequence":"first","affiliation":[{"name":"Santa Casa de Miseric\u00f3rdia de Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Vale Scribel da","family":"Silva","sequence":"additional","affiliation":[{"name":"Santa Casa de Miseric\u00f3rdia de Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina Flores de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Santa Casa de Miseric\u00f3rdia de Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerson","family":"Vetoratto","sequence":"additional","affiliation":[{"name":"Santa Casa de Miseric\u00f3rdia de Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Bissacotti","family":"Steglich","sequence":"additional","affiliation":[{"name":"Santa Casa de Miseric\u00f3rdia de Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josiane","family":"Borges","sequence":"additional","affiliation":[{"name":"Santa Casa de Miseric\u00f3rdia de Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","series-title":"Dermatology","first-page":"877","volume-title":"Keratodermas","author":"Krol LA","year":"2012","edition":"3rd ed"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.5070\/D316G809SF","article-title":"A new variant of Vohwinkel syndromea case report","volume":"17","author":"Seirafi H","year":"2011","journal-title":"Dermatol Online J"},{"key":"ref3","series-title":"Fitzpatrick's dermatology in general medicine","volume-title":"Inherited Keratodermas of palms and soles","author":"Kelsell PD","year":"2008","edition":"7th ed"},{"key":"ref4","series-title":"Rook's textbook of dermatology","first-page":"19.98","volume-title":"Disorders of keratinization","author":"Judge MR","year":"2010","edition":"8th ed"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1177\/1753193408098901","article-title":"Keratodermia hereditarium mutilans (Vohwinkel syndrome)","volume":"34","author":"Sinha M","year":"2009","journal-title":"J Hand Surg Eur Vol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1046\/j.1365-2230.2002.01031.x","article-title":"A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome","volume":"27","author":"O'Driscoll J","year":"2002","journal-title":"Clin Exp Dermatol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1111\/j.0022-202X.2004.22431.x","article-title":"Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)","volume":"122","author":"Schmuth M","year":"2004","journal-title":"J Invest Dermatol"},{"key":"ref8","first-page":"311","article-title":"Vohwinkel's mutilating keratoderma report of three familial cases","volume":"78","author":"Cavalcante LIS","year":"2003","journal-title":"An Bras Dermatol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.1365-4632.2009.04267.x","article-title":"Vohwinkel syndrome treatment of pseudo-ainhum","volume":"49","author":"Bassetto F","year":"2010","journal-title":"Int J Dermatol"}],"container-title":["Anais Brasileiros de Dermatologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abd\/v88n6s1\/0365-0596-abd-88-06-s1-0206.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T15:00:41Z","timestamp":1747666841000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0365-05962013000800206&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":9,"journal-issue":{"issue":"6 suppl 1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0365-05962013000800206"],"URL":"https:\/\/doi.org\/10.1590\/abd1806-4841.20132135","relation":{},"ISSN":["0365-0596"],"issn-type":[{"value":"0365-0596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}