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New Emirates Medical Journal

ISSN (Online): 0250-6882

Case Report

Not all Erosions are Inflammatory: A Rare Case of Erosive Arthritis with Fibromatosis

Author(s): Aysha Mohammed Almeqbaali*, Abdullatif Reyadh Almehaideb, Vijay Ram Papineni, Sehriban Diab and Ritu Aneja

Volume 5, 2024

Published on: 19 October, 2023

Article ID: e02506882252433 Pages: 4

DOI: 10.2174/0102506882252433230925043717



Background: Polyfibromatosis is a rare syndrome characterized by benign fibrous proliferation in different locations. It can be divided into two major categories: superficial and deep. Palmar fibromatosis (Dupuytren's contracture) in variable combinations with plantar fibromatosis (Ledderhose's disease), penile fibromatosis (Peyronie's disease), knuckle pads, and keloids are part of the spectrum seen in polyfibromatosis. There is a rare association of polyfibromatosis with keloids and erosive arthritis. Only four reported cases of polyfibromatosis with erosive arthritis and/or osteolysis have been described in the literature. In this report, we present one such case and review the existing literature on this rare syndrome. We also highlight the possibility of underlying genetic disorders in our patient, such as mucopolysaccharidosis with musculoskeletal manifestation, due to certain dysmorphic features and optic atrophy.

Case Presentation: The patient was a 23-year-old female with palmar and plantar fibromatosis accompanied by erosive arthritis. In addition, the patient had facial dysmorphic features, optic atrophy, and nystagmus. Extensive investigations were conducted, and no evidence of inflammatory rheumatic disease was found. The Patient exhibited features consistent with polyfibromatosis.

Discussion: A rare association between polyfibromatosis and erosive arthropathy with osteolysis has been demonstrated in literature through four case reports spanning from 1979 to 2018. The presence of dysmorphic facial features and ocular complications suggests a possible genetic or metabolic etiology, such as mucopolysaccharidosis.

Conclusion: This patient presents a diagnostic and therapeutic challenge. It is important to recognise the non-inflammatory etiology in order to avoid unnecessary treatment with anti-rheumatic drugs.

Keywords: Erosive arthritis, Polyfibromatosis, Mucopolysaccharidosis, Palmar fibromatosis, Dupuytren's contracture, Ledderhose's disease.

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