Fibromatosis Juvenile Hyaline

Common Name(s)

Fibromatosis Juvenile Hyaline, Juvenile Hyalinosis Fibromatosis, Infantile Systemic Hyalinosis

Juvenile hyaline fibromatosis is a genetic disease in which bumps develop in the skin and other tissues.  The characteristic bumps occur when a substance called hyaline builds up in normal tissues.  The bumps form within the first few years of life, can be of various sizes, and may be painful.  This condition may also cause increased growth of the gums (gingival hypertrophy), joint contractures which can limit movement, and digestive problems (enteropathy).  Individuals with this condition have normal intelligence.  Juvenile hyaline fibromatosis is caused by changes (mutations) in the ANTXR2 gene and is inherited in an autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibromatosis Juvenile Hyaline" for support, advocacy or research.

Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

Last Updated: 2 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibromatosis Juvenile Hyaline" for support, advocacy or research.

Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fibromatosis Juvenile Hyaline" returned 15 free, full-text research articles on human participants. First 3 results:

Juvenile hyaline fibromatosis or hyaline fibromatosis syndrome?
 

Author(s): Bhavana Bharambe

Journal: Indian J Pathol Microbiol. ;55(4):610.

 

Last Updated: 4 Mar 2013

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Juvenile hyaline fibromatosis: a rare lesion.
 

Author(s): Yasmin Altaf Momin, Bhavana Madhukar Bharambe, Grace D'Costa

Journal: Indian J Pathol Microbiol. ;54(4):838-9.

 

Last Updated: 11 Jan 2012

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[Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis].
 

Author(s): Flávia Vieira Brandão, Cláudia Márcia Resende Silva, Bernardo Gontijo, Antônio Carlos Martins Guedes

Journal: An Bras Dermatol. ;84(6):677-9.

 

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular ...

Last Updated: 1 Mar 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fibromatosis Juvenile Hyaline" returned 1 free, full-text review articles on human participants. First 3 results:

Juvenile hyaline fibromatosis: a case report and review of literature.
 

Author(s): Sandra Lúcia Ribeiro, Erilane L Guedes, Valeria Botan, Alessandra Barbosa, Ernani J Freitas

Journal: Acta Reumatol Port. ;34(1):128-33.

 

Juvenile hyaline fibromatosis (JHF) is a rare disease with autosomal recessive inheritance that occurs mainly in childhood and is characterized by the deposition of amorphous hyaline material in the skin and other organs. There are approximately 70 cases reported in the literature. ...

Last Updated: 14 Apr 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.