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.

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis? / Cinotti, Elisa; Ferrero, Giulio; Paparo, Francesco; Papadia, Marina; Faravelli, Francesca; Rongioletti, Franco; Traverso, Carlo; Di Maria, Emilio. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 161:6(2013), pp. 1214-1220. [10.1002/ajmg.a.35908]

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

RONGIOLETTI, FRANCO;
2013-01-01

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.
2013
Arthropathy
Conjunctival pannus
Distinctive face
Joint contractures
Keloid
Polyfibromatosis
Abnormalities
multiple
Arthrography
Cleft palate
Comparative genomic hybridization
Conjunctival diseases
Contracture
Cytogenetic analysis
Diagnosis
differential
Fibroma
Fibromatosis
gingival
Fibrosis
Foot joints
Gingival Ooergrowth
Hand joints
Humans
Hydrocephalus
Joint diseases
Keloid
Limb deformities
congenital
Male
Middle aged
Osteolysis
Genetics
Genetics (clinical)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/111512
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