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.
Copyright © 2013 Wiley Periodicals, Inc.
MeSH terms
-
Abnormalities, Multiple / diagnostic imaging
-
Abnormalities, Multiple / genetics
-
Abnormalities, Multiple / pathology
-
Arthrography
-
Cleft Palate / diagnostic imaging
-
Cleft Palate / genetics
-
Cleft Palate / pathology
-
Comparative Genomic Hybridization
-
Conjunctival Diseases / diagnostic imaging
-
Conjunctival Diseases / genetics
-
Conjunctival Diseases / pathology*
-
Contracture / diagnostic imaging
-
Contracture / genetics
-
Contracture / pathology
-
Cytogenetic Analysis
-
Diagnosis, Differential
-
Fibroma / diagnostic imaging
-
Fibroma / genetics
-
Fibroma / pathology*
-
Fibromatosis, Gingival / diagnostic imaging
-
Fibromatosis, Gingival / genetics
-
Fibromatosis, Gingival / pathology*
-
Fibrosis / diagnostic imaging
-
Fibrosis / genetics
-
Fibrosis / pathology
-
Foot Joints / diagnostic imaging
-
Foot Joints / pathology
-
Gingival Overgrowth / diagnostic imaging
-
Gingival Overgrowth / genetics
-
Gingival Overgrowth / pathology
-
Hand Joints / diagnostic imaging
-
Hand Joints / pathology
-
Humans
-
Hydrocephalus / diagnostic imaging
-
Hydrocephalus / genetics
-
Hydrocephalus / pathology
-
Joint Diseases / diagnostic imaging
-
Joint Diseases / genetics
-
Joint Diseases / pathology*
-
Keloid / diagnostic imaging
-
Keloid / genetics
-
Keloid / pathology
-
Limb Deformities, Congenital / diagnostic imaging
-
Limb Deformities, Congenital / genetics
-
Limb Deformities, Congenital / pathology
-
Male
-
Middle Aged
-
Osteolysis / diagnostic imaging
-
Osteolysis / genetics
-
Osteolysis / pathology*