Erosive Arthropathy with Osteolysis As a Typical Feature in Polyfibromatosis Syndrome: A Case Report and a Review of the Literature

Abstract

Polyfibromatosis syndrome is a rare disease entity that is characterized by various clinical features such as palmar, plantar, and penile fibromatoses, keloid formations of the skin, and erosive arthropathy. Its precise pathophysiology or etiology remains unclear. In addition to distinctive diverse skin manifestations, patients with polyfibromatosis have been previously reported to show erosive arthropathy with significant limitation of movement at affected joints. However, the presence of erosive polyarthropathy in polyfibromatosis has not emphasized in previous cases. Here, we report a case of polyfibromatosis syndrome combined with painless massive structural destruction of hand and foot joints, and review the characteristics of erosive arthropathy in previous cases.

X‐linked recessive polyfibromatosis manifesting with spontaneous keloid scars and Dupuytren's contracture

“…Clinical polyfibromatosis was first described by Touraine in 1945 and is characterized by: i) superficial fibromatoses – including palmar fibromatoses (Dupuytren's contracture, DC), plantar fibromatoses (Ledderhose's disease), penile fibromatoses (Peyronie's) and knuckle pads; and ii) deep fibromatoses – including extra‐abdominal, abdominal, and intra‐abdominal desmoids 1 . Aggressive forms associated with erosive arthropathy and osteolysis, spontaneous keloids, interstitial granulomatous dermatitis, and severe skeletal abnormalities have been described 2–5 . A positive association with diabetes has also been reported 6 .…”

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

“…PF was first described by Touraine et al [], and since then fewer than 30 cases have been reported, of which four had also arthropathy [Pierard and Lapiere, ; Fenton et al, ; Lee et al, ; Chen et al, ; Kim et al, ] (Table ). This patient has many manifestations of PF, since he exhibits fibrosis of palms and feet, knuckle pads and multiple keloid‐like lesions with histopathological features of myofibroblastic proliferation, associated with acral arthropathy and osteolysis.…”

“…Haugen and Bertelsen [] reported a woman and her two sons with pannus formation, corneal dystrophy associated with progressive hand contractures and extensive keloids, which resembles the phenotype in the present proband. An autosomal dominant disorder was thought to be the most likely explanation in this family, though X‐linked transmission could not be ruled out.Keloids can be associated with Dupuytren contractures [González‐Martínez et al, ; Ly and Winship, ] and with PF with arthropathy [Kim et al, ]. A single patient with PF also had hyperpigmentation [Fenton et al, ].…”

“…Polyfibromatosis (PF) is an infrequently described fibrosing condition characterized by fibromatosis in different body areas and by keloid formation [Touraine et al, ]. Polyfibromatosis can be associated with arthropathy and osteolysis [Kim et al, ]. We describe an adult man with characteristics of PF and arthropathy who also showed additional signs including severe conjunctival fibrosis, gingival hyperplasia and a distinctive face.…”