Literature DB >> 11206353

Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature.

G Keser1, B Karabulut, F Oksel, C Calli, E E Ustün, T Akalin, H Koçanaoğullari, G Gümüdiş, E Doğanavşargil.   

Abstract

In this paper, we describe two siblings with Juvenile Hyaline Fibromatosis (JHF) who were diagnosed at the age of 34 and 29 years respectively. JHF is a very congenital disease, mainly diagnosed in the first few years of life, with less than 40 published cases in literature. All the main clinical features of this syndrome, which may be summarised as multiple subcutaneous tumours, marked gingival hypertrophy, flexion contractures and osteolytic lesions were present in both of these cases. Clinical, radiological and histological differential diagnosis of JHF were made. Recent information about histopathology, treatment and prognosis of JHF was also reviewed.

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Year:  1999        PMID: 11206353     DOI: 10.1007/s100670050094

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN: 0770-3198            Impact factor:   2.980


  15 in total

1.  Juvenile hyaline fibromatosis: focus on radiographic features in adulthood.

Authors:  Samy Slimani; Assia Haddouche; Sabrina Haid; Aicha Ladjouze-Rezig
Journal:  Rheumatol Int       Date:  2010-07-27       Impact factor: 2.631

2.  Juvenile Hyaline Fibromatosis: A 10-year Follow-up.

Authors:  Esra Baltacioglu; Esra Guzeldemir; Erkan Sukuroglu; Kadriye Yildiz; Pinar Yuva; Güven Aydin; Naci Karacal
Journal:  Indian J Dermatol       Date:  2017 Mar-Apr       Impact factor: 1.494

Review 3.  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

4.  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

5.  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

6.  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

7.  Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Authors:  Sandra Hanks; Sarah Adams; Jenny Douglas; Laura Arbour; David J Atherton; Sevim Balci; Harald Bode; Mary E Campbell; Murray Feingold; Gökhan Keser; Wim Kleijer; Grazia Mancini; John A McGrath; Francesco Muntoni; Arti Nanda; M Dawn Teare; Matthew Warman; F Michael Pope; Andrea Superti-Furga; P Andrew Futreal; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2003-08-21       Impact factor: 11.025

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.  The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Authors:  Nazneen Rahman; Melanie Dunstan; M Dawn Teare; Sandra Hanks; Sarah J Edkins; Jaime Hughes; Graham R Bignell; Grazia Mancini; Wim Kleijer; Mary Campbell; Gokhan Keser; Carol Black; Nigel Williams; Laura Arbour; Matthew Warman; Andrea Superti-Furga; P Andrew Futreal; F Michael Pope
Journal:  Am J Hum Genet       Date:  2002-09-04       Impact factor: 11.025

10.  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

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