Hyperplastic callus formation in congenital insensitivity to pain: A masquerader of osteosarcoma

Background: Congenital insensitivity to pain (CIP) is a rare genetic disorder characterized by the inability to experience pain. Unrecognized, repeated injuries may result in poorly healed fractures with hyperplastic callus formation, auto-amputation of digits, and osteomyelitis. In addition, the lo...

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Bibliographic Details
Main Authors: Maha Anwar, Maha Rashid Malik, Shaarif Bashir, Usman Hassan, Alina Sadaf
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Pediatric Hematology Oncology Journal
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S246812452200540X
Description
Summary:Background: Congenital insensitivity to pain (CIP) is a rare genetic disorder characterized by the inability to experience pain. Unrecognized, repeated injuries may result in poorly healed fractures with hyperplastic callus formation, auto-amputation of digits, and osteomyelitis. In addition, the loss of joint proprioception leads to neuropathic osteoarthropathy (Charcot joints). Case report: A child with a progressively increasing swelling of the left proximal tibia and an aggressive bone lesion on imaging was suspected to have osteosarcoma. The diagnosis of hyperplastic callus formation was established through a multidisciplinary approach with imaging and repeat tissue biopsy. Conclusion: In the context of CIP, malignant bone tumors, including osteosarcoma are a differential diagnosis and require a review of history, examination, radiology and histology.
ISSN:2468-1245