Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit.

INTRODUCTION: Rare bone diseases (RBDs) are a heterogenous group of disorders that are poorly understood and challenging to treat. This creates a plethora of unmet needs for people with RBDs as well as their families and care providers, including diagnostic delays, limited access to expert care, and a lack of specialized treatments. The RBD Summit, which took place across 2 days in November 2021, was a virtual meeting of 65 RBD experts from clinical, academic, and patient communities as well as the pharmaceutical industry. The first meeting of its kind, the RBD Summit aimed to facilitate dialog and information exchange between delegates to advance knowledge and awareness of RBDs and improve patient outcomes. METHODS: Key challenges were discussed, and actions for overcoming them were proposed, including how obstacles to diagnosis can be overcome by (a) improving awareness of RBDs, (b) the implementation of a person-centered care pathway, and (c) how to narrow the communication gap between patients and healthcare professionals. RESULTS: Agreed actions were categorized as short term and long term, and priorities determined. CONCLUSION: In this position paper, we provide an overview of key discussions from the RBD Summit, summarize the subsequent action plan, and discuss the next steps in this continued collaboration.

Hip Pain in Children.

BACKGROUND: Atraumatic hip pain in children is one of the most common symptoms with which pediatricians, orthopedists, and general practitioners are confronted, with an incidence of 148 cases per 100 000 persons per year. METHODS: This article is based on publications up to April 2019 that were retrieved by a selective search in the PubMed data- base, including case reports and reviews. RESULTS: Infants with fever often have purulent coxitis, which can be diagnosed by blood tests and ultrasonography. Toddlers and older children may suffer from painful restriction of motion of the hip joint, associated with limping (antalgic gait) or even the in- ability to walk. The main elements of the differential diagnosis in children aged 2-10 are coxitis fugax and idiopathic necrosis of the femoral head (Perthes disease). In children aged 10 and up, and in adolescents, slipped capital femoral epiphysis (SCFE) is typical. Bone tumors and rheumatic diseases must always be considered as well. The initial diagnostic steps on presentation of a child with restricted hip movement should be plain x-rays and joint ultrasonography for the detection of an effusion. Suspicion of a tumor is the main indication for tomographic imaging (computed tomography or magnetic resonance imaging). CONCLUSION: The underlying cause of hip pain in children should be diagnosed early to avoid adverse sequelae.