Literature DB >> 23637089

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?

Elisa Cinotti1, Giulio Ferrero, Francesco Paparo, Marina Papadia, Francesca Faravelli, Franco Rongioletti, Carlo Traverso, Emilio Di Maria.   

Abstract

Polyfibromatosis is a rare fibrosing condition characterized by fibromatosis in different body areas and by keloid formation, and which can be associated with arthropathy and osteolysis. Familial occurrence has been described, but the cause remains unknown. Here, we describe a patient with characteristics of polyfibromatosis with arthropathy who had in addition severe conjunctival fibrosis, distinctive face, gingival overgrowth, and pigmented keloids. We discuss the resemblances and differences with polyfibromatosis and descriptions of other, similar patients. We conclude that at present it remains uncertain whether the patient has a variant of polyfibromatosis or a separate entity.
Copyright © 2013 Wiley Periodicals, Inc.

Entities:  

Mesh:

Year:  2013        PMID: 23637089     DOI: 10.1002/ajmg.a.35908

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

1.  Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Authors:  Linda Xu; Hanne Jensen; Jennifer J Johnston; Emilio Di Maria; Katja Kloth; Ileana Cristea; Julie C Sapp; Thomas N Darling; Laryssa A Huryn; Lisbeth Tranebjærg; Elisa Cinotti; Christian Kubisch; Eyvind Rødahl; Ove Bruland; Leslie G Biesecker; Gunnar Houge; Cecilie Bredrup
Journal:  Am J Hum Genet       Date:  2018-11-15       Impact factor: 11.025

2.  Erosive Arthritis, Fibromatosis, and Keloids: A Rare Dermatoarthropathy.

Authors:  Fawad Aslam; Jonathan A Flug; Yousif Yonan; Shelley S Noland
Journal:  Case Rep Rheumatol       Date:  2018-04-22

3.  Progression of skin lesions in Warburg-Cinotti syndrome.

Authors:  Christopher A Ours; Leslie G Biesecker; Thomas N Darling
Journal:  JAAD Case Rep       Date:  2021-12-15
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.