{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:47:12Z","timestamp":1773103632749,"version":"3.50.1"},"reference-count":8,"publisher":"PAGEPress Publications","issue":"1","license":[{"start":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T00:00:00Z","timestamp":1747699200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatol Reports"],"abstract":"<jats:p>Urbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications. Clinical signs, as well as the severity of the disease, are highly variable, while its course is usually slowly progressive. The typical primary sign is hoarse crying due to laryngeal infiltration at birth or during early childhood. Alterations of the skin and mucous membranes develop within the first two years of life. The skin lesions initially appear on the face and limbs and usually resolve by healing. Infiltration of the respiratory system can cause upper respiratory tract infections, hoarseness or aphonia, dysphagia, and even airway obstruction. Dystonia, epileptic seizures, and learning disorders may be observed in affected children. Treatment remains a major challenge as no standardized therapies exist, but oral acitretin appears to be effective in improving skin manifestations. We report two clinical cases of young women suffering from LP, presenting with dermatological, otorhinolaryngological, and neurological symptoms, currently referred to our Rare Cutaneous Syndrome Center at the Policlinico Umberto I in Rome (Italy).<\/jats:p>","DOI":"10.4081\/dr.2025.10230","type":"journal-article","created":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T04:28:05Z","timestamp":1747715285000},"source":"Crossref","is-referenced-by-count":0,"title":["Urbach-Wiethe syndrome: report of two clinical cases"],"prefix":"10.4081","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4817-9641","authenticated-orcid":false,"given":"Ilaria","family":"Demofonte","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Miraglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Pellacani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7034-3816","authenticated-orcid":false,"given":"Sandra","family":"Giustini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2549","published-online":{"date-parts":[[2025,5,20]]},"reference":[{"key":"36438","unstructured":"1. LeWitt TM, Paller AS, Bell A, et al. Lipoid Proteinosis. [Updated 2023 Jun 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK568769\/"},{"key":"36439","doi-asserted-by":"crossref","unstructured":"2. Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002;27:624-9.","DOI":"10.1046\/j.1365-2230.2002.01143.x"},{"key":"36440","doi-asserted-by":"crossref","unstructured":"3. Tripathi A, Kumar Gupta S. Lipoid Proteinosis Masquerading as Seborrheic Dermatitis. Cureus 2021;13:e15617.","DOI":"10.7759\/cureus.15617"},{"key":"36441","doi-asserted-by":"crossref","unstructured":"4. Abril-Jaramillo J, Mond\u00e9jar R, Lucas M, et al. Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement. Neurologia 2017;32:125-7.","DOI":"10.1016\/j.nrleng.2015.04.002"},{"key":"36442","doi-asserted-by":"crossref","unstructured":"5. Hamada T, McLean WH, Ramsay M, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;11:833-40.","DOI":"10.1093\/hmg\/11.7.833"},{"key":"36443","doi-asserted-by":"crossref","unstructured":"6. Chan I, Liu L, Hamada T, et al. The molecular basis of lipoid proteinosis: mutation in extracellular matrix protein 1. Exp Dermatol 2007;16:881-90.","DOI":"10.1111\/j.1600-0625.2007.00608.x"},{"key":"36444","doi-asserted-by":"crossref","unstructured":"7. Almeida Jr HL, Rodeghiero RG, Susuki PN, Ogawa MM. Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease). An Bras Dermatol 2021;96:730-4.","DOI":"10.1016\/j.abd.2021.04.010"},{"key":"36445","doi-asserted-by":"crossref","unstructured":"8. Singh S, Mittal S, Bhari A, Bhari N. Lipoid proteinosis. BMJ Case Rep 2017:2017:bcr2017221632.","DOI":"10.1136\/bcr-2017-221632"}],"container-title":["Dermatology Reports"],"original-title":[],"link":[{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10230\/9663","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10230\/9885","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10230\/9663","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T13:46:08Z","timestamp":1773063968000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/view\/10230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,20]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,2,12]]}},"URL":"https:\/\/doi.org\/10.4081\/dr.2025.10230","relation":{},"ISSN":["2036-7406","2036-7392"],"issn-type":[{"value":"2036-7406","type":"electronic"},{"value":"2036-7392","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5,20]]}}}