Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology

Abstract

Perthes disease typically presents between the ages of 4 and 9 years and is characterized by unilateral or bilateral avascular necrosis of the femoral head. Clinically it presents with pain and decreased range of motion and has a disease course of up to 5 years. We report the clinical and radiological findings of a female in early adolescence who was referred to pediatric physiotherapy and found to have Perthes-like changes of the hip, on a background of tricho-rhino-phalangeal syndrome type 1 (TRPS1). The patients first symptoms of hip pain were reported at age 10, but there was no radiographic evidence until 2.5 years later when a diagnosis of Perthes disease was made. This uniquely late presentation may have been due to the altered skeletal maturation seen in TRPS1, whereby skeletal age lags behind chronological age. This case highlights the importance of identifying relevant past medical history on initial assessment, and having rapid access to radiology and orthopedic support to enable timely diagnosis, as prognosis becomes poorer as age increases. Perthes-like changes should be considered as a differential diagnosis in patients presenting with non-traumatic hip pain, regardless of age of onset.

J Med Cases. 2023;14(7):244-250
doi: https://doi.org/10.14740/jmc4125