| Literature DB >> 23637089 |
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.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