{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T11:12:25Z","timestamp":1723201945940},"reference-count":17,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,18]]},"DOI":"10.7759\/cureus.47250","type":"journal-article","created":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T10:00:43Z","timestamp":1697623243000},"source":"Crossref","is-referenced-by-count":2,"title":["Multisystemic Manifestations of Hyaline Fibromatosis Syndrome: Implications for Diagnosis and Management"],"prefix":"10.7759","author":[{"given":"Noor","family":"Albusta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan M","family":"Isa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halima E","family":"Al-Jowder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.4103\/0019-5154.190129","article-title":"Hyaline fibromatosis syndrome: a rare inherited disorder","volume":"61","author":"Mantri MD","year":"2016","unstructured":"Mantri MD, Pradeep MM, Kalpesh PO, Pranavsinh RJ. Hyaline fibromatosis syndrome: a rare inherited disorder. Indian J Dermatol. 2016, 61:580. 10.4103\/0019-5154.190129","journal-title":"Indian J Dermatol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15861","article-title":"CMG2\/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome","volume":"8","author":"B\u00fcrgi J","year":"2017","unstructured":"B\u00fcrgi J, Kunz B, Abrami L, et al.. CMG2\/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun. 2017, 8:15861. 10.1038\/ncomms15861","journal-title":"Nat Commun"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201100124","article-title":"Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors","volume":"3","author":"Deuquet J","year":"2011","unstructured":"Deuquet J, Lausch E, Guex N, et al.. Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. EMBO Mol Med. 2011, 3:208-21. 10.1002\/emmm.201100124","journal-title":"EMBO Mol Med"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35228","article-title":"Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system","volume":"158A","author":"Denadai R","year":"2012","unstructured":"Denadai R, Raposo-Amaral CE, Bertola D, et al.. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet A. 2012, 158A:732-42. 10.1002\/ajmg.a.35228","journal-title":"Am J Med Genet A"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.24911\/JBCGenetics\/183-1596702951","article-title":"Infantile systemic hyalinosis: report of a case from Bahrain and review of literature","volume":"3","author":"Alsahlawi Z","year":"2020","unstructured":"Alsahlawi Z, Alfayez FN, Hasan SM, Mohammed D, Aljishi E. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. J Biochem Clin Genet. 2020, 3:108-12. 10.24911\/JBCGenetics\/183-1596702951","journal-title":"J Biochem Clin Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09769.x","article-title":"Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis","volume":"163","author":"El-Kamah GY","year":"2010","unstructured":"El-Kamah GY, Fong K, El-Ruby M, et al.. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. Br J Dermatol. 2010, 163:213-5. 10.1111\/j.1365-2133.2010.09769.x","journal-title":"Br J Dermatol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20163799","article-title":"Hyaline fibromatosis syndrome: cutaneous manifestations","volume":"91","author":"Marques SA","year":"2016","unstructured":"Marques SA, Stolf HO, Polizel JO, Munhoz T, Brand\u00e3o MC, Marques ME. Hyaline fibromatosis syndrome: cutaneous manifestations. An Bras Dermatol. 2016, 91:226-9. 10.1590\/abd1806-4841.20163799","journal-title":"An Bras Dermatol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-8-291","article-title":"Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report","volume":"8","author":"Jaouad IC","year":"2014","unstructured":"Jaouad IC, Guaoua S, Hajjioui A, Sefiani A. Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. J Med Case Rep. 2014, 8:291. 10.1186\/1752-1947-8-291","journal-title":"J Med Case Rep"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.06.005","article-title":"Abnormal collagen deposition in fibromas from patient with juvenile hyaline fibromatosis","volume":"55","author":"Tanaka K","year":"2009","unstructured":"Tanaka K, Ebihara T, Kusubata M, et al.. Abnormal collagen deposition in fibromas from patient with juvenile hyaline fibromatosis. J Dermatol Sci. 2009, 55:197-200. 10.1016\/j.jdermsci.2009.06.005","journal-title":"J Dermatol Sci"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2022.106897","article-title":"The diagnostic challenge of juvenile hyaline fibromatosis, a case report with literature reviews","volume":"93","author":"Ahmed RS","year":"2022","unstructured":"Ahmed RS, Ali AA, Abdullah HO, et al.. The diagnostic challenge of juvenile hyaline fibromatosis, a case report with literature reviews. Int J Surg Case Rep. 2022, 93:106897. 10.1016\/j.ijscr.2022.106897","journal-title":"Int J Surg Case Rep"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.4103\/ajps.AJPS_162_20","article-title":"Infantile systemic hyalinosis: variable grades of severity","volume":"18","author":"Al Kaissi A","year":"2021","unstructured":"Al Kaissi A, Hilmi M, Betadolova Z, et al.. Infantile systemic hyalinosis: variable grades of severity. Afr J Paediatr Surg. 2021, 18:224-30. 10.4103\/ajps.AJPS_162_20","journal-title":"Afr J Paediatr Surg"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.5546\/aap.2015.e264","article-title":"Hyaline fibromatosis syndrome: case report of two siblings (Article in Spanish)","volume":"113","author":"Rangel Rivera DA","year":"2015","unstructured":"Rangel Rivera DA, Mendoza Rojas VC, Uribe P\u00e9rez CJ, Contreras-Garc\u00eda GA. Hyaline fibromatosis syndrome: case report of two siblings (Article in Spanish). Arch Argent Pediatr. 2015, 113:e264-7. 10.5546\/aap.2015.e264","journal-title":"Arch Argent Pediatr"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.42913","article-title":"Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?","volume":"74","author":"Dhingra M","year":"2008","unstructured":"Dhingra M, Amladi S, Savant S, Nayak C. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?. Indian J Dermatol Venereol Leprol. 2008, 74:371-4. 10.4103\/0378-6323.42913","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22324","article-title":"In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy","volume":"34","author":"Yan SE","year":"2013","unstructured":"Yan SE, Lemmin T, Salvi S, et al.. In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. Hum Mutat. 2013, 34:1005-17. 10.1002\/humu.22324","journal-title":"Hum Mutat"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.10823","article-title":"Juvenile hyaline fibromatosis: literature review and a case treated with surgical excision and corticosteroid","volume":"12","author":"Braizat O","year":"2020","unstructured":"Braizat O, Badran S, Hammouda A. Juvenile hyaline fibromatosis: literature review and a case treated with surgical excision and corticosteroid. Cureus. 2020, 12:e10823. 10.7759\/cureus.10823","journal-title":"Cureus"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2011.442","article-title":"The dark sides of capillary morphogenesis gene 2","volume":"31","author":"Deuquet J","year":"2012","unstructured":"Deuquet J, Lausch E, Superti-Furga A, van der Goot FG. The dark sides of capillary morphogenesis gene 2. EMBO J. 2012, 31:3-13. 10.1038\/emboj.2011.442","journal-title":"EMBO J"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1203","article-title":"Clinical aspects of hyaline fibromatosis syndrome and identification of a novel mutation","volume":"8","author":"H\u00e4rter B","year":"2020","unstructured":"H\u00e4rter B, Benedicenti F, Karall D, et al.. Clinical aspects of hyaline fibromatosis syndrome and identification of a novel mutation. Mol Genet Genomic Med. 2020, 8:e1203. 10.1002\/mgg3.1203","journal-title":"Mol Genet Genomic Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/194768-multisystemic-manifestations-of-hyaline-fibromatosis-syndrome-implications-for-diagnosis-and-management","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:11:14Z","timestamp":1707509474000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/194768-multisystemic-manifestations-of-hyaline-fibromatosis-syndrome-implications-for-diagnosis-and-management"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,18]]},"references-count":17,"URL":"https:\/\/doi.org\/10.7759\/cureus.47250","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10,18]]}}}