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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1214-1220
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number6
DOIs
Publication statusPublished - Jun 2013

Keywords

  • Arthropathy
  • Conjunctival pannus
  • Distinctive face
  • Joint contractures
  • Keloid
  • Polyfibromatosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?'. Together they form a unique fingerprint.

Cite this