Hyaline Fibromatosis Syndrome

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Xu, C. Hyaline Fibromatosis Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4128 (accessed on 29 September 2026).

Xu C. Hyaline Fibromatosis Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4128. Accessed September 29, 2026.

Xu, Camila. "Hyaline Fibromatosis Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4128 (accessed September 29, 2026).

Xu, C. (2020, December 23). Hyaline Fibromatosis Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4128

Xu, Camila. "Hyaline Fibromatosis Syndrome." Encyclopedia. Web. 23 December, 2020.

Hyaline Fibromatosis Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hyaline-fibromatosis-syndrome

Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.

genetic conditions

References

Bürgi J, Kunz B, Abrami L, Deuquet J, Piersigilli A, Scholl-Bürgi S, Lausch E,Unger S, Superti-Furga A, Bonaldo P, van der Goot FG. CMG2/ANTXR2 regulatesextracellular collagen VI which accumulates in hyaline fibromatosis syndrome. NatCommun. 2017 Jun 12;8:15861. doi: 10.1038/ncomms15861.
Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S,Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS. Identification of 2 novel ANTXR2mutations in patients with hyaline fibromatosis syndrome and proposal of amodified grading system. Am J Med Genet A. 2012 Apr;158A(4):732-42. doi:10.1002/ajmg.a.35228.
Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, van der Goot FG.Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872.
Deuquet J, Lausch E, Superti-Furga A, van der Goot FG. The dark sides ofcapillary morphogenesis gene 2. EMBO J. 2012 Jan 4;31(1):3-13. doi:10.1038/emboj.2011.442.
El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, Amr K,El-Darouti M, McGrath JA. Spectrum of mutations in the ANTXR2 (CMG2) gene ininfantile systemic hyalinosis and juvenile hyaline fibromatosis. Br J Dermatol.2010 Jul;163(1):213-5. doi: 10.1111/j.1365-2133.2010.09769.x.
Tanaka K, Ebihara T, Kusubata M, Adachi E, Arai M, Kawaguchi N, Utsunomiya J, Miki Y, Hiramoto M, Hattori S, Irie S. Abnormal collagen deposition in fibromasfrom patient with juvenile hyaline fibromatosis. J Dermatol Sci. 2009Sep;55(3):197-200. doi: 10.1016/j.jdermsci.2009.06.005.
Yan SE, Lemmin T, Salvi S, Lausch E, Superti-Furga A, Rokicki D, Dal Peraro M,van der Goot FG. In-depth analysis of hyaline fibromatosis syndrome frameshiftmutations at the same site reveal the necessity of personalized therapy. HumMutat. 2013 Jul;34(7):1005-17. doi: 10.1002/humu.22324.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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