Bone Abstracts

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterised by congenital malformation of the great toes and progressive heterotopic endochondral ossification. The disease progresses with episodic flare-ups, resulting in disabling cumulative immobility. The discovery of the ACVR1 gene as the cause of FOP has allowed identification of therapeutic targets. Palovarotene, a retinoic acid receptor gamma agonist, is in phase 2 clinical trials.<...

Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Individuals with FOP develop progressive limitations in chest expansion, resulting in restrictive lung disease. Current management guidelines published in 2011 (1) highlight that Influenza may be a causative factor for FOP flare-ups, and can also cause potentially deadly cardiopulmonary complications, e...

A healthy 8-year-old girl of Nigerian origin, presented in January 2014 with a 2 month history of progressive pain and swelling of the right 2nd, 3rd and 4th toe. There was no preceding trauma or illness. Those toes were swollen, tender and cold to touch, with bluish skin discoloration (Figure 1).She had normal peripheral pulses. Her inflammatory markers were normal, as was haemoglobin electrophoresis. A Doppler ultrasoun...

Objectives: To assess the role of whole-body MRI in the diagnosis and management of chronic recurrent multifocal osteomyelitis (CRMO) is a benign and non-infective auto-inflammatory bone disorder characterised by multiple and recurrent inflammatory bone lesions. No universal diagnostic criteria exist.Methods: Retrospective review of CRMO cases diagnosed at this hospital between 2008 and 2014. Cases were identified from patient records and clinical inform...

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disorder that has been difficult to diagnose in the past. Diagnosis used to depend on bone biopsy but can now be made with whole-body MRI scan.Presenting problem: A 9-year-old healthy girl had a 2-year history of pain, swelling, redness and heat in her right foot following a fall from bars in the park. She had an X-ray of her foot on the day of injury which was rep...

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...