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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Main Authors: Maha Anwar (Author), Maha Rashid Malik (Author), Shaarif Bashir (Author), Usman Hassan (Author), Alina Sadaf (Author)
Format: Book
Published: Elsevier, 2023-03-01T00:00:00Z.
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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.
Item Description:2468-1245
10.1016/j.phoj.2022.12.009