Juvenile hyaline fibromatosis
{{Infobox medical condition (new)
| name = Juvenile hyaline fibromatosis
| synonyms = Puretic syndrome{{cite web |last1=RESERVED |first1=INSERM US14-- ALL RIGHTS |title=Orphanet: Juvenile hyaline fibromatosis |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 |website=www.orpha.net |access-date=28 April 2019 |language=en}}
| image = Autosomal recessive - en.svg
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| caption = Autosomal recessive pattern is the inheritance manner of this condition
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| field = dermatology
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Juvenile hyaline fibromatosis (also known as fibromatosis hyalinica multiplex juvenilis and Murray–Puretic–Drescher syndrome{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=978-1-4160-2999-1 }}) is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from early childhood to adulthood, and presents as slow-growing, pearly white or skin-colored dermal or subcutaneous papules or nodules on the face, scalp, and back, which may be confused clinically with neurofibromatosis.Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 989. McGraw-Hill. {{ISBN|0-07-138076-0}}. The World Health Organization in 2020 reclassified the papules and nodules that occur in juvenile hyaline fibromatosis as one of the specific benign types of tumors in the category of fibroblastic and myofibroblastic tumors.{{cite journal | vauthors = Sbaraglia M, Bellan E, Dei Tos AP | title = The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives | journal = Pathologica | volume = 113 | issue = 2 | pages = 70–84 | date = April 2021 | pmid = 33179614 | pmc = 8167394 | doi = 10.32074/1591-951X-213 | url = }}
Presentation
This condition is characterised by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular and systemic involvement.
Clinical features include extreme pain at minimal handling in a newborn, gingival hypertrophy, subcutaneous nodules, painful joint stiffness and contractures, muscle weakness and hypotonia.
Genetics
This condition is due to mutations in the anthrax toxin receptor-2 (ANTXR2) gene. This gene is also known as capillary morphogenesis protein-2.
This gene is located on the long arm of chromosome 4 (4q21.21).
Management
There is no presently known curative treatment for this condition.{{citation needed|date=November 2018}}
Management is supportive.
Prognosis
Prognosis is very poor with a median age at death of 15 months.{{Cite book |last=Davis |first=J. L. |title=WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours |publisher=International Agency for Research on Cancer |year=2020 |edition=5th |volume=3 |location=Lyon |chapter=Juvenile hyaline fibromatosis}}
Epidemiology
84 cases have been reported as of 2018.Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A (2018) Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. Hum Mutat doi: 10.1002/humu.23638
Notable cases
Argentinian Matías Fernández Burzaco, aged 23, published a book about his experience of the condition, “Formas Propias”.{{cite web | url=https://www.smartshanghai.com/event/71224 | title=Literature Talk: Own Forms. A Diary of a Body at War | SmartShanghai }} He has also performed as a rap artist.{{cite web | url=https://www.bbc.co.uk/programmes/m001qjtv | title=BBC News - Out of Shape }}
See also
References
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External links
{{Medical resources
| ICD10 = M72.8
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| OMIM = 228600
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| MeSH = D057770
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| Orphanet = 2028
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{{Soft tissue tumors and sarcomas}}