Juvenile Hyaline Fibromatosis: Two New Patients and Review of the Literature
Overview
Affiliations
We report on a sister and a brother (born to normal consanguineous parents) with joint contractures and osteolytic lesions of bones. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, ears, and neck. Histologic examination showed findings of juvenile hyaline fibromatosis. The literature is reviewed, and 15 cases already reported are summarized.
A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity.
Baroud S, Alawadhi A Cureus. 2021; 13(7):e16433.
PMID: 34414050 PMC: 8365122. DOI: 10.7759/cureus.16433.
Castiglione D, Terranova M, Picone D, Lo Re G, Salerno S Skeletal Radiol. 2017; 47(3):425-431.
PMID: 29058046 DOI: 10.1007/s00256-017-2799-y.
Hammoudah S, El-Attar L Intractable Rare Dis Res. 2016; 5(2):124-8.
PMID: 27195198 PMC: 4869580. DOI: 10.5582/irdr.2016.01003.
Nakouzi G, Kreidieh K, Yazbek S J Community Genet. 2014; 6(1):83-105.
PMID: 25261319 PMC: 4286563. DOI: 10.1007/s12687-014-0203-3.
The dark sides of capillary morphogenesis gene 2.
Deuquet J, Lausch E, Superti-Furga A, van der Goot F EMBO J. 2012; 31(1):3-13.
PMID: 22215446 PMC: 3252584. DOI: 10.1038/emboj.2011.442.