Am J Med Genet A. 2013 Jun;161A(6):1214-20

Authors: Cinotti E, Ferrero G, Paparo F, Papadia M, Faravelli F, Rongioletti F, Traverso C, Di Maria E

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.

PMID: 23637089 [PubMed – indexed for MEDLINE]