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Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?
Author(s) -
Cinotti Elisa,
Ferrero Giulio,
Paparo Francesco,
Papadia Marina,
Faravelli Francesca,
Rongioletti Franco,
Traverso Carlo,
Di Maria Emilio
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35908
Subject(s) - medicine , arthropathy , osteolysis , dermatology , keloid , pannus , arthritis , fibrosis , pathology , osteoarthritis , surgery , alternative medicine
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. © 2013 Wiley Periodicals, Inc.