{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:28:59Z","timestamp":1786595339791,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Laryngoscope"],"abstract":"ABSTRACT<\/jats:title>\n \n Objectives<\/jats:title>\n To analyze the clinical characteristics of patients with lipoid proteinosis and evaluate the long\u2010term efficacy of microsurgical treatment for laryngeal lesions.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This retrospective cohort study included 46 patients diagnosed with lipoid proteinosis following microsurgical resection of laryngeal lesions under general anesthesia. Clinical, genetic, and voice quality assessments (GRBAS, VHI\u201030, acoustic\/aerodynamic parameters, laryngoscopic features) were collected preoperatively and at 2, 6, 12, and 24\u2009months postoperatively.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n All 46 patients developed hoarseness before age 5, with 58.7% presenting at birth. Laryngoscopy revealed diffuse bilateral yellowish vocal fold deposits with markedly reduced mucosal waves in all patients; arytenoid (73.9%), oral (63.0%), and pharyngeal (41.3%) involvement were common. Skin manifestations included eyelid papules (73.9%) and extremity lesions (69.6%). At 6\u2009months postoperatively, significant improvements were observed in G (2.70\u2009\u00b1\u20090.38\u20131.48\u2009\u00b1\u20090.51,\n p<\/jats:italic>\n \u2009<\u20090.01), VHI\u201030 (55.6\u2009\u00b1\u200921.9\u201342.2\u2009\u00b1\u200920.9,\n p<\/jats:italic>\n \u2009<\u20090.05), and MPT (8.3\u2009\u00b1\u20092.9\u20139.6\u2009\u00b1\u20092.4\u2009s,\n p<\/jats:italic>\n \u2009<\u20090.05). The improvement rate reached 100% at 1\u2009year and remained stable at 2\u2009years. Complete glottic closure was restored in 71.7% of patients; 6 patients underwent secondary vocal fold fat injection with further improvement.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Lipoid proteinosis typically presents with infantile\u2010onset persistent hoarseness due to diffuse vocal fold deposits. Microlaryngosurgery significantly improves laryngeal morphology and vocal quality with stable long\u2010term outcomes. Vocal fold fat injection may serve as an effective supplementary treatment for selected patients. Early recognition and surgical intervention are crucial for optimizing voice outcomes.<\/jats:p>\n <\/jats:sec>\n \n Level of Evidence<\/jats:title>\n 4<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/lary.70811","type":"journal-article","created":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:04:23Z","timestamp":1786593863000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Characteristics of Lipoid Proteinosis and Long\u2010Term Outcomes of Microlaryngosurgery"],"prefix":"10.1002","author":[{"given":"Xiaoyu","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing Tongren Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhong","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing Tongren Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2708-4238","authenticated-orcid":false,"given":"Liyu","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing Tongren Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2795-1255","authenticated-orcid":false,"given":"Xueyan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing Tongren Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8691-9509","authenticated-orcid":false,"given":"Rong","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing Tongren Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1308-9732","authenticated-orcid":false,"given":"Wen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing Tongren Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,12]]},"reference":[{"key":"e_1_2_10_2_1","first-page":"1","article-title":"Urbach\u2010Wiethe Disease (Lipoglycoproteinosis; Lipoid Proteinosis; Hyalinosis Cutis et Mucosae). A Review","volume":"53","author":"Hofer P.\u2010A.","year":"1973","journal-title":"Acta Dermato\u2010Venereologica. Supplementum"},{"issue":"5","key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0945-053X(97)90017-2","article-title":"Characterization of the Human Extracellular Matrix Protein 1 Gene on Chromosome 1q21","volume":"16","author":"Johnson M. R.","year":"1997","journal-title":"Matrix Biology"},{"issue":"21","key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"17920","DOI":"10.1074\/jbc.M100156200","article-title":"Profiling Changes in Gene Expression During Differentiation and Maturation of Monocyte\u2010Derived Dendritic Cells Using Both Oligonucleotide Microarrays and Proteomics","volume":"276","author":"Le Naour F.","year":"2001","journal-title":"Journal of Biological Chemistry"},{"issue":"7","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/hmg\/11.7.833","article-title":"Lipoid Proteinosis Maps to 1q21 and Is Caused by Mutations in the Extracellular Matrix Protein 1 Gene (ECM1)","volume":"11","author":"Hamada T.","year":"2002","journal-title":"Human Molecular Genetics"},{"issue":"11","key":"e_1_2_10_6_1","first-page":"767","article-title":"Otolaryngological Manifestations and Genetic Characteristics of Lipoid Proteinosis","volume":"119","author":"Xu W.","year":"2010","journal-title":"Annals of Otology, Rhinology, and Laryngology"},{"issue":"10","key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1017\/S0022215118001329","article-title":"The Management of Laryngeal Lipoid Proteinosis","volume":"132","author":"Ally M.","year":"2018","journal-title":"Journal of Laryngology and Otology"},{"issue":"1","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1111\/ijd.17331","article-title":"Cutaneous Findings and Treatment Responses of Lipoid Proteinosis Patients","volume":"64","author":"An \u0130.","year":"2025","journal-title":"International Journal of Dermatology"},{"issue":"6","key":"e_1_2_10_9_1","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1093\/ced\/llae039","article-title":"Advances in Treatment for Lipoid Proteinosis (Urbach\u2010Wiethe Disease): A Case Report and Systematic Review","volume":"49","author":"Bueno\u2010Molina R. C.","year":"2024","journal-title":"Clinical and Experimental Dermatology"},{"issue":"4","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.pedex.2010.07.003","article-title":"Long\u2010Term Follow\u2010Up of Lipoid Proteinosis Laryngeal Manifestations","volume":"6","author":"Al Dousary S.","year":"2011","journal-title":"International Journal of Pediatric Otorhinolaryngology Extra"},{"issue":"8","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","DOI":"10.1093\/jscr\/rjac360","article-title":"Late Presentation of Laryngeal Lipoid Proteinosis: A Case Report and Review of the Literature","volume":"2022","author":"Alrusayyis D. F.","year":"2022","journal-title":"Journal of Surgical Case Reports"},{"issue":"1","key":"e_1_2_10_12_1","first-page":"109S","article-title":"Lipoid Proteinosis of the Pharynx and Larynx: A Case Report","volume":"104","author":"Li Z.","year":"2025","journal-title":"Ear, Nose, & Throat Journal"},{"key":"e_1_2_10_13_1","series-title":"Orphanet Report Series","volume-title":"Prevalence of Rare Diseases: Bibliographic Data","author":"Orphanet Editorial Team","year":"2022"},{"issue":"5","key":"e_1_2_10_14_1","doi-asserted-by":"crossref","first-page":"866","DOI":"10.4103\/idoj.idoj_710_23","article-title":"Lipoid Proteinosis: A Rare Case Report and Review of Literature","volume":"15","author":"Verma D.","year":"2024","journal-title":"Indian Dermatology Online Journal"},{"issue":"7","key":"e_1_2_10_15_1","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1007\/s00784-016-2017-7","article-title":"Lipoid Proteinosis Unveiled by Oral Mucosal Lesions: A Comprehensive Analysis of 137 Cases","volume":"21","author":"Frenkel B.","year":"2017","journal-title":"Clinical Oral Investigations"},{"issue":"1","key":"e_1_2_10_16_1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/pde.15105","article-title":"Lipoid Proteinosis: Novel ECM1 Pathogenic Variants and Intrafamilial Variability in Four Unrelated Arab Families","volume":"40","author":"Li M.","year":"2023","journal-title":"Pediatric Dermatology"},{"key":"e_1_2_10_17_1","article-title":"Early Diagnosis of a Case of Lipoid Proteinosis due to an Undescribed Deletion in ECM1 Gene","author":"Mansilla\u2010Polo M.","journal-title":"Journal der Deutschen Dermatologischen Gesellschaft"},{"issue":"3","key":"e_1_2_10_18_1","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1046\/j.1523-1747.2003.12073.x","article-title":"Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype\u2010Phenotype Correlation","volume":"120","author":"Hamada T.","year":"2003","journal-title":"Journal of Investigative Dermatology"},{"key":"e_1_2_10_19_1","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.2147\/CCID.S415682","article-title":"Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family With Lipoid Proteinosis","volume":"16","author":"Xu M.","year":"2023","journal-title":"Clinical, Cosmetic and Investigational Dermatology"},{"issue":"3","key":"e_1_2_10_20_1","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/exd.12620","article-title":"Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With c.507delT Mutation in ECM1","volume":"24","author":"Youssefian L.","year":"2015","journal-title":"Experimental Dermatology"},{"issue":"3","key":"e_1_2_10_21_1","doi-asserted-by":"crossref","first-page":"178","DOI":"10.3109\/09546631003639407","article-title":"Clinical and Histopathological Response to Acitretin Therapy in Lipoid Proteinosis","volume":"22","author":"Akoglu G.","year":"2011","journal-title":"Journal of Dermatological Treatment"},{"issue":"10","key":"e_1_2_10_22_1","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.2340\/00015555-2752","article-title":"Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin","volume":"97","author":"Carnevale C.","year":"2017","journal-title":"Acta Dermato\u2010Venereologica"},{"issue":"1","key":"e_1_2_10_23_1","doi-asserted-by":"crossref","first-page":"128.e15","DOI":"10.1016\/j.jvoice.2015.12.007","article-title":"A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx","volume":"31","author":"Chen Z.","year":"2017","journal-title":"Journal of Voice"},{"issue":"9","key":"e_1_2_10_24_1","doi-asserted-by":"crossref","first-page":"4555","DOI":"10.1007\/s00405-024-08713-x","article-title":"Laryngeal Features in Lipoid Proteinosis: A Systematic Review and Meta\u2010Analysis of Individual Participant Data","volume":"281","author":"Cocchi C.","year":"2024","journal-title":"European Archives of Oto\u2010Rhino\u2010Laryngology"},{"issue":"4","key":"e_1_2_10_25_1","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1111\/ijd.12254","article-title":"Demographic, Clinical, and Radiologic Signs and Treatment Responses of Lipoid Proteinosis Patients: A 10\u2010Case Series From \u015eanl\u0131urfa","volume":"53","author":"Dertlio\u011flu S. B.","year":"2014","journal-title":"International Journal of Dermatology"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.70811","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/lary.70811","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.70811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:04:26Z","timestamp":1786593866000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.70811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,12]]},"references-count":24,"alternative-id":["10.1002\/lary.70811"],"URL":"https:\/\/doi.org\/10.1002\/lary.70811","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,12]]},"assertion":[{"value":"2026-06-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"lary.70811"}}