Late onset hyperplastic callus formation in osteogenesis imperfecta type V simulating osteosarcoma—A case report

Vonderlind, Hans Christoph; Jessel, Matthias; Knobel, Alexander; Juergensen, Ingke; Struewer, Johannes

doi:10.1016/j.ijscr.2020.03.024

Cited by 6 publications

(1 citation statement)

References 15 publications

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“…8 However, in this case, the pathology results of the biopsy taken and the amputated limb revealed intramedullary osteosarcoma, and patients reported to have HPC mimicking osteosarcoma can be misdiagnosed with periosteal or cortical osteosarcoma, given the benign mass that forms on the bone surface, giving an appearance, in radiography and CT, similar to this type of osteosarcoma. 13,14 Furthermore, this patient, given the variant found in the IFITM5 gene and the absence of classical features of the disease, cannot be classified as OI type V but as IFITM5-related OI until a proper evaluation and classification of patients with this new variant is performed.…”

Section: Dovepressmentioning

confidence: 99%

A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report

Pachajoa¹,

Giraldo-Ocampo²

2022

ORR

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Osteogenesis imperfecta (OI) is a group of genetic skeletal disorders, with a prevalence of 1 in 15,000-20,000 births. OI type V has been described in approximately 150 cases and all patients carry the variant (c.-14C> T) in the IFITM5 gene. However, two other variants, p.S40L and p.N48S have been reported in this gene, leading to clinical phenotypes different from OI type V. Here we described a patient with multiple bone fractures, scoliosis, skull alteration (plagiocephaly), bone deformation, bone rickets, and intramedullary epithelioid osteosarcoma that bears the recently reported heterozygous variant c.143A>G (p.N48S) in the IFITM5 gene. This case supports the pathogenicity of this new variant in the IFITM5 gene and adds information regarding its clinical phenotype.

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Section: Dovepressmentioning

confidence: 99%