Medicine:Juvenile hyaline fibromatosis

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Juvenile hyaline fibromatosis
Other namesPuretic syndrome[1]
Autosomal recessive pattern is the inheritance manner of this condition
SpecialtyDermatology

Juvenile hyaline fibromatosis (also known as fibromatosis hyalinica multiplex juvenilis[2] and Murray–Puretic–Drescher syndrome[2]) 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.[3] 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.[4]

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

Management is supportive.

Prognosis

Prognosis is very poor with a median age at death of 15 months.[5]

Epidemiology

84 cases have been reported as of 2018.[6]

Notable cases

Argentinian Matías Fernández Burzaco, aged 23, published a book about his experience of the condition, “Formas Propias”.[7] He has also performed as a rap artist.[8]

See also

  • List of cutaneous conditions

References

  1. ↑ "Orphanet: Juvenile hyaline fibromatosis". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028. 
  2. ↑ 2.0 2.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. 
  3. ↑ Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. 2003. p. 989. ISBN 0-07-138076-0. 
  4. ↑ "The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives". Pathologica 113 (2): 70–84. April 2021. doi:10.32074/1591-951X-213. PMID 33179614. 
  5. ↑ Davis, J.L. (2020). "Juvenile hyaline fibromatosis". WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. 3 (5th ed.). Lyon: International Agency for Research on Cancer. 
  6. ↑ "Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations". Hum Mutat 39 (12): 1752–63. December 2018. doi:10.1002/humu.23638. PMID 30176098. 
  7. ↑ "Literature Talk: Own Forms. A Diary of a Body at War". SmartShanghai. https://www.smartshanghai.com/event/71224. 
  8. ↑ "Out of Shape". BBC News. https://www.bbc.co.uk/programmes/m001qjtv. 
Classification
External resources

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| name = Soft tissue tumors and sarcomas
| title = Connective/[[Physics:Soft tsoft tissue tumors and sarcomas (ICD-O 8800–9059) (C45–C49/D17–D21, 171/214–215)
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| listclass = hlist

| group1 = Not otherwise specified
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| group2 = Connective tissue neoplasm

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Fibromatous
Fibroma/fibrosarcoma:
Fibroma/fibromatosis:
Histiocytoma/histiocytic sarcoma:
Myxomatous
Fibroepithelial
Synovial-like
general:
smooth muscle:
skeletal muscle:
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