Ann Orthop Musculoskelet Disord | Volume 5, Issue 1 | Case Report | Open Access
Şenol PE1*, İnci A2, Serdaroğlu E3, Vural O4, Demir E3, Esendağlı G5, Pınarlı FG4, Atalar H6, Arıkan M6, Ezgü FS2 and Bakkaloğlu SA1
1Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Turkey 2Department of Pediatric Metabolism, Gazi University Faculty of Medicine, Turkey 3Department of Pediatric Neurology, Gazi University Faculty of Medicine, Turkey 4Department of Pediatric Oncology, Gazi University Faculty of Medicine, Turkey 5Department of Pathology, Gazi University Faculty of Medicine, Turkey 6Department of Orthopedics and Traumatology, Gazi University Faculty of Medicine, Turkey
*Correspondance to: Pelin Esmeray Şenol
Fulltext PDFCongenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare autosomal recessive inherited condition that severely affects the peripheral nervous system. It leads to a decrease in myelinated nerves and loss of unmyelinated ones. This results in pain insensitivity, anhidrosis, intellectual disability, and repetitive involuntary injurious movements; such as oral self-mutilation, biting of fingertips, bruising, and scratching which predispose the skin to various infections. Clinical findings and biallelic pathogenic variants in NTRK1 (neurotrophic receptor tyrosine kinase 1) are important in diagnosis. No cure is available and the treatment is supportive. Here, we report an atypical case of a 4-year-old female patient who presented with a swelling in her left leg, whose detected bone mass was misdiagnosed as an osteosarcoma with predominant chondroblastic features. During her follow-up, only after her second presentation with multiple bone fractures, she could finally be diagnosed as CIPA. The patient was initially followed up after a short period of chemotherapy with the diagnosis of osteosarcoma. Upon her next presentation with swelling in the same leg with multiple bone fractures, the biopsy was repeated, and this time it was diagnosed as an exaggerated callus formation, a major pathological mimicker of chondroblastic osteosarcoma, and then, a final diagnosis of CIPA was reached, genetically.
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Şenol PE, İnci A, Serdaroğlu E, Vural O, Demir E, Esendağlı G, et al. A Case of Pain Insensitivity Syndrome Mimicking Osteosarcoma. Ann Orthop Musculoskelet Disord. 2023; 5(1): 1037..