Literature DB >> 3544844

Juvenile hyaline fibromatosis: two new patients and review of the literature.

M N Fayad, A Yacoub, S Salman, A Khudr, V M Der Kaloustian.   

Abstract

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.

Entities:  

Mesh：

Year:  1987        PMID： 3544844     DOI： 10.1002/ajmg.1320260119

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors:  Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal:  J Community Genet       Date:  2014-09-27

Review 2.  The dark sides of capillary morphogenesis gene 2.

Authors:  Julie Deuquet; Ekkehart Lausch; Andrea Superti-Furga; F Gisou van der Goot
Journal:  EMBO J       Date:  2011-12-06       Impact factor: 11.598

3.  Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts.

Authors:  F Breier; S Fang-Kircher; K Wolff; W Jurecka
Journal:  Arch Dis Child       Date:  1997-11       Impact factor: 3.791

4.  Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis.

Authors:  So-Young Yoo; Ji Hye Kim; Ho Seok Kang; Yong Seung Hwang; Ki Joong Kim; In-One Kim; Jung-Eun Cheon; Su-Mi Shin; Chong Jai Kim; Jee Hun Lee; Mun Hyang Lee; Jong Hee Chae
Journal:  Skeletal Radiol       Date:  2010-02-06       Impact factor: 2.199

5.  Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Authors:  Oonagh Dowling; Analisa Difeo; Maria C Ramirez; Turgut Tukel; Goutham Narla; Luisa Bonafe; Hulya Kayserili; Memnune Yuksel-Apak; Amy S Paller; Karen Norton; Ahmad S Teebi; Valerie Grum-Tokars; Gail S Martin; George E Davis; Marc J Glucksman; John A Martignetti
Journal:  Am J Hum Genet       Date:  2003-09-12       Impact factor: 11.025

6.  Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature.

Authors:  Sahar Ahmed Fathi Hammoudah; Lama Mohammed El-Attar
Journal:  Intractable Rare Dis Res       Date:  2016-05

7.  Juvenile hyaline fibromatosis.

Authors:  Kyung Tae Park; Dong-Yeop Chang; Myung-Whun Sung
Journal:  Clin Exp Otorhinolaryngol       Date:  2010-06-30       Impact factor: 3.372

8.  Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution.

Authors:  Davide Castiglione; Maria Chiara Terranova; Dario Picone; Giuseppe Lo Re; Sergio Salerno
Journal:  Skeletal Radiol       Date:  2017-10-23       Impact factor: 2.199

9.  Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.

Authors:  Julie Deuquet; Ekkehart Lausch; Nicolas Guex; Laurence Abrami; Suzanne Salvi; Asvin Lakkaraju; Maria Celeste M Ramirez; John A Martignetti; Dariusz Rokicki; Luisa Bonafe; Andrea Superti-Furga; Françoise G van der Goot
Journal:  EMBO Mol Med       Date:  2011-02-15       Impact factor: 12.137
  9 in total

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