A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

Introduction: Trichorhinophalangeal syndrome (TRPS) is a sporadic autosomal dominant disorder with approximately 200 reported cases worldwide. We aimed to report 15-year-old girl TRPS type 1 (TRPS1) and the second case rare non-ossifying fibroma (NOF) in distal part of her left femur. Case Presentation: introduce who presented outpatient rheumatology clinic at 17 Shahrivar Children's Hospital, Rasht, Iran, chief complaint osteoarticular pain bone deformities. She had sparse hair, recession fronto-temporal hairline, unusually thick eyebrows medial abnormal sparseness lateral margins. Physical examination limbs revealed short fingers toes proximal interphalangeal (PIP) ulnar deviation third both hands. Shortness fourth fingers, especially right hand, swelling PIP joints hands were prominent. Genetic analysis showed deletion mutation TRPS1 gene chromosome 8q24 compatible TRPS1. Conclusions: Several symptoms signs, including distinctive craniofacial features ectodermal skeletal abnormalities, are used for proper diagnosis. A correct on-time diagnosis essential perform supportive care patient prevent morbidities. Bone lesions, such as NOF1, can also be patients may correlated mutation. Further investigations required on association NOF lesions.