{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:40:16Z","timestamp":1756287616083,"version":"3.44.0"},"reference-count":29,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,10,22]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>Hyaline fibromatosis syndrome is a rare, progressive and fatal autosomal recessive disorder characterised by multiple subcutaneous skin nodules, osteopenia, joint contractures, failure to thrive, diarrhoea and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. The disease is often underdiagnosed since infants affected with the disease pass away early prior to establishing a final diagnosis. We describe an infant presenting with failure to thrive, progressive severe joint contractures and skin changes. Clinical exome sequencing revealed homozygous novel missense variation in exon 3 of the anthrax toxin receptor 2 gene confirming the diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2024-260969","type":"journal-article","created":{"date-parts":[[2024,11,9]],"date-time":"2024-11-09T01:30:19Z","timestamp":1731115819000},"page":"e260969","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rare case of hyaline fibromatosis syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Ashok Kumar","family":"Gupta","sequence":"first","affiliation":[{"name":"Pediatrics, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amita","family":"Moriangthem","sequence":"additional","affiliation":[{"name":"Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8659-7658","authenticated-orcid":false,"given":"Kirti","family":"Naranje","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3427-7441","authenticated-orcid":false,"given":"Anita","family":"Singh","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,11,8]]},"reference":[{"key":"2025082702252273000_17.11.e260969.1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1007\/s10067-005-0124-y","article-title":"Infantile systemic hyalinosis: report of three Iranian children and review of the literature","volume":"26","author":"Aghighi","year":"2007","journal-title":"Clin Rheumatol"},{"key":"2025082702252273000_17.11.e260969.2","first-page":"717","article-title":"Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs","volume":"23","author":"Al-Mayouf","year":"2005","journal-title":"Clin Exp Rheumatol"},{"key":"2025082702252273000_17.11.e260969.3","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3109\/15513818609025925","article-title":"Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis","volume":"6","author":"Landing","year":"1986","journal-title":"Pediatr Pathol"},{"key":"2025082702252273000_17.11.e260969.4","doi-asserted-by":"publisher","DOI":"10.1086\/378781"},{"key":"2025082702252273000_17.11.e260969.5","doi-asserted-by":"publisher","DOI":"10.1086\/378418"},{"key":"2025082702252273000_17.11.e260969.6","doi-asserted-by":"crossref","first-page":"213","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","year":"2010","journal-title":"Br J Dermatol"},{"key":"2025082702252273000_17.11.e260969.7","doi-asserted-by":"crossref","first-page":"10","DOI":"10.4103\/2229-5178.73250","article-title":"Infantile systemic hyalinosis: A case report and review of literature","volume":"1","author":"Madke","year":"2010","journal-title":"Indian Dermatol Online J"},{"key":"2025082702252273000_17.11.e260969.8","doi-asserted-by":"publisher","DOI":"10.1159\/000018058"},{"key":"2025082702252273000_17.11.e260969.9","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1097\/00001665-200309000-00022","article-title":"Infantile systemic hyalinosis","volume":"14","author":"Al-Najjadah","year":"2003","journal-title":"J Craniofac Surg"},{"key":"2025082702252273000_17.11.e260969.10","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.joms.2004.06.055","article-title":"Juvenile hyaline fibromatosis: report of a case and comparison with infantile systemic hyalinosis","volume":"63","author":"Lim","year":"2005","journal-title":"J Oral Maxillofac Surg"},{"key":"2025082702252273000_17.11.e260969.11","doi-asserted-by":"crossref","first-page":"124","DOI":"10.5582\/irdr.2016.01003","article-title":"Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature","volume":"5","author":"Hammoudah","year":"2016","journal-title":"Intractable Rare Dis Res"},{"key":"2025082702252273000_17.11.e260969.12","doi-asserted-by":"crossref","first-page":"210","DOI":"10.5582\/irdr.2015.01027","article-title":"Infantile systemic hyalinosis in identical twins","volume":"4","author":"Koonuru","year":"2015","journal-title":"Intractable Rare Dis Res"},{"key":"2025082702252273000_17.11.e260969.13","first-page":"69","article-title":"Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature","volume":"6","author":"Aggarwal","year":"2016","journal-title":"J Orthop Case Rep"},{"key":"2025082702252273000_17.11.e260969.14","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1600-0714.1995.tb01155.x","article-title":"Oral manifestations of infantile systemic hyalinosis","volume":"24","author":"Devlin","year":"1995","journal-title":"J Oral Pathol Med"},{"key":"2025082702252273000_17.11.e260969.15","first-page":"42","article-title":"Gingival hyperplasia in hyaline fibromatosis--a report of two cases","volume":"9","author":"Al-Malik","year":"2007","journal-title":"J Int Acad Periodontol"},{"key":"2025082702252273000_17.11.e260969.16","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s00431-008-0760-8","article-title":"Infantile systemic hyalinosis presenting as intractable infantile diarrhea","volume":"168","author":"Al-Mubarak","year":"2009","journal-title":"Eur J Pediatr"},{"key":"2025082702252273000_17.11.e260969.17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1992.tb00342.x"},{"key":"2025082702252273000_17.11.e260969.18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1994.tb00076.x"},{"key":"2025082702252273000_17.11.e260969.19","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1007\/s00296-010-1666-0","article-title":"Ultrasound findings in infantile systemic hyalinosis","volume":"31","author":"Mendon\u00e7a","year":"2011","journal-title":"Rheumatol Int"},{"key":"2025082702252273000_17.11.e260969.20","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1111\/j.0736-8046.2004.21214.x","article-title":"Infantile systemic hyalinosis or juvenile hyaline fibromatosis?","volume":"21","author":"Urbina","year":"2004","journal-title":"Pediatr Dermatol"},{"key":"2025082702252273000_17.11.e260969.21","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010422)100:2<122::AID-AJMG1236>3.0.CO;2-0"},{"key":"2025082702252273000_17.11.e260969.22","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.a.30117","article-title":"Infantile systemic hyalinosis: a clinicopathological study","volume":"129A","author":"Criado","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2025082702252273000_17.11.e260969.23","first-page":"258","article-title":"A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis","volume":"45","author":"B\u00fcy\u00fckgebiz","year":"2003","journal-title":"Turk J Pediatr"},{"key":"2025082702252273000_17.11.e260969.24","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1089\/pai.2009.0011","article-title":"Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections","volume":"22","author":"Klebanova","year":"2009","journal-title":"Pediatr Asthma Allergy Immunol"},{"key":"2025082702252273000_17.11.e260969.25","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/S1090-3798(03)00109-0","article-title":"Skeletal muscle involvement in infantile systemic hyalinosis","volume":"7","author":"Zolkipli","year":"2003","journal-title":"Eur J Paediatr Neurol"},{"key":"2025082702252273000_17.11.e260969.26","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1016\/S0190-9622(03)02798-1","article-title":"Infantile systemic hyalinosis","volume":"50","author":"Shin","year":"2004","journal-title":"J Am Acad Dermatol"},{"key":"2025082702252273000_17.11.e260969.27","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1515\/JPEM.2007.20.7.833","article-title":"Infantile systemic hyalinosis with early thyroid dysfunction","volume":"20","author":"Pirgon","year":"2007","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082702252273000_17.11.e260969.28","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.01.039"},{"key":"2025082702252273000_17.11.e260969.29","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1002\/humu.23638","article-title":"Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations","volume":"39","author":"Casas-Alba","year":"2018","journal-title":"Hum Mutat"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-260969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:25:31Z","timestamp":1756286731000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-260969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":29,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,11,8]]},"published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1136\/bcr-2024-260969"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-260969","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,11]]}}}