P065 A case of fibrodysplasia ossificans progressiva in Kenya

Background Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and disabling disorder affecting 1 in 2 million individuals worldwide. It is caused by mutations in bone morphogenetic protein which leads to extra-skeletal ossification of soft tissues in a characteristic cranio-caudal pattern. Hallux valgus, episodic flares and progressive functional disability are characteristic features. The cause of death is often cardio-respiratory failure following thoracic insufficiency. The objective of our case study is to describe a rare but interesting case of fibrodysplasia ossificans progressiva (FOP) in an African setting. Methods This was a retrospective case review Results Two-year-old boy presented with painful firm masses of bony consistency over the axilla, neck, occiput and the forehead for seven months. He developed progressive inability to lift the arms, flex his neck and had a characteristic stiff posture while walking. The masses had a waxing and waning nature lasting about 4–5 days but with no complete resolution. He was previously treated with antibiotics for lymphadenitis which was diagnosed by biopsy of the neck mass at a different health facility. On examinationhe had bony masses on the posterior aspect of the neck tender on palpation and attached to the underlying subcutaneous tissue. Similar masses were found on his anterior and posterior chest wall measuring 1 cm by 1 cm anteriorly and larger masses- measuring 5 cm by 5 cm posteriorly. He had bilateral hallux valgus and both elbows held in fixed flexion. His fingers had varying degrees of fixed flexion. The lower limbs were unaffected. Laboratory evaluation within normal ranges. extensive dystrophic soft tissue calcification around both elbows outlining the joint capsules. dystrophic soft tissue calcification in the bilateral axillae extensive “sheet like” soft tissue dystrophic calcifications overlying the posterior elements of the vertebral column separate from the vertebrae. Histology showed muscle replacement by hyaline cartilage and bone with intervening fibromyxoid stroma. Discussion & Conclusions This case is meant to raise awareness of this rare disease across Africa. The misdiagnosis of FOP approaches 90% of cases worldwide. Definitive genetic testing of FOP is now available and can now confirm a diagnosis before the appearance of heterotopic ossifications. Clinical suspicion of FOP early in life on the basis of malformed great toes can lead to early clinical diagnosis. Current management focuses on early diagnosis, avoidance of trauma and optimization of function. A short course of oral steroids is beneficial in prevention of flares.

Spinal Stenosis Caused by Calcinosis in a Patient With Systemic Sclerosis

Calcinosis or dystrophic soft-tissue calcification occurs in damaged/devitalized tissues in the presence of normal calcium/ phosphorus metabolism.1 It is a known complication of connective tissues diseases, especially juvenile dermatomyositis and systemic sclerosis (SSc), and may be localized or widespread.2

Calcinosis cutis in limited cutaneous systemic sclerosis

Soft tissue calcification is seen in some rheumatological diseases, including systemic sclerosis. We herein present a clinical image of calcinosis cutis of finger pulps and its characteristic radiographic image in a patient with limited cutaneous systemic sclerosis.

Systemic sclerosis skin is a primed microenvironment for soft tissue calcification—a hypothesis

Calcinosis cutis, defined as sub-epidermal deposition of calcium salts, is a major clinical problem in patients with SSc, affecting 20–40% of patients. A number of recognized factors associated with calcinosis have been identified, including disease duration, digital ischaemia and acro-osteolysis. Yet, to date, the pathogenesis of SSc-related calcinosis remains unknown, and currently there is no effective disease-modifying pharmacotherapy. Following onset of SSc, there are marked changes in the extracellular matrix (ECM) of the skin, notably a breakdown in the microfibrillar network and accumulation of type I collagen. Our hypothesis is that these pathological changes reflect a changing cellular phenotype and result in a primed microenvironment for soft tissue calcification, with SSc fibroblasts adopting a pro-osteogenic profile, and specific driving forces promoting tissue mineralization. Considering the role of the ECM in disease progression may help elucidate the mechanism(s) behind SSc-related calcinosis and inform the development of future therapeutic interventions.

Comparison of dental and skeletal indices between patients under haemodialysis and peritoneal dialysis with healthy individuals in digital panoramic radiography

Objective: The aim was to compare dental and skeletal indices in panoramic radiography between patients undergoing haemodialysis, peritoneal dialysis and age- and sex-matched control group. Methods: In this comparative cross-sectional study, quantitative Indices including Antegonial Index (AI), Mental Index (MI), Panoramic Mandibular Index (PMI) and qualitative indices including Mandibular Cortical Index (MCI) and Trabecular Pattern (TP) were evaluated in panoramic images of 32 haemodialysis patients, 14 patients under peritoneal dialysis and 52 healthy individuals. The images were also investigated for pulp canal calcification, pulp stones, soft tissue calcification, changes in or loss of lamina dura, radiolucencies associated with brown tumour and ridge resorption. The indices were compared between the three groups and were investigated for association with the patients’ blood test parameters and their diseases causing chronic renal failure (CRF). Intraobserver agreement for the 2-week interval of assessment was calculated for the indices. Results MI (p = 0.574) and PMI (p = 0.100) were not significantly different, but AI (p = 0.01), MCI (p < 0.001) and TP (p = 0.002) were significantly different between the two case groups and the control group. The prevalence of pulp calcification (p = 0.03) and ridge resorption (p = 0.005) was higher in the haemodialysis group. Soft tissue calcification (p = 0.85) and lamina dura changes (p = 0.9) showed no significant difference. Brown tumours were observed in only one case in the haemodialysis group. Conclusions: AI, MCI and TP showed a reduction in mineral density of the cortical and trabecular bone in CRF patients and more severely in patients under haemodialysis than those under peritoneal dialysis.

Incidental Findings in Temporomandibular Joint Region Detected by Cone-beam Computed Tomography: A Retrospective Study

Purpose: The purpose of this study was to investigate the prevalence of Incidental Findings (IFs) in the temporomandibular joint (TMJ) region detected in Cone-Beam Computed Tomography (CBCT) scans of maxilla and mandible. Materials and Methods: In this study, 384 CBCT scans were reviewed for IFs of the TMJ region. Demographic data including age and sex were recorded. The scans were evaluated in multiplanar views: corrected sagittal, corrected coronal and axial sections. IFs in TMJ region were categorized into eight groups: osteoarthritis, flattening and erosion of condyle and articular eminence, osteophytes, subchondral pseudocyst, condyle hyperplasia, condyle hypoplasia, bifid condyle, and soft tissue calcification. Statistical analyses were performed using the SPSS statistic v.22. Results: From the CBCT scans, a total of 81 (21.1%) IFs were identified. 184 of the subjects (47.9%) were male and 200 (52.1%) were females. Their age ranged from 10 to 75 years old with a mean of 36.8 and a standard deviation of 13.9 years. The most frequent IFs were flattening and erosion of condyle and articular eminence (40.74%), followed by soft tissue calcification (30.86%). Osteoarthritis was not observed in any of the subjects. There was no significant difference between females and males in IFs of TMJ joint and its related structures. Flattening and erosion of condyle and articular eminence, soft tissue calcification, osteophytes and, subchondral pseudo cyst showed significant differences between individuals of different age ranges. Conclusion: While examining CBCT images, it is critical to check for evidence of IFs in the TMJ region. The findings of this study emphasize the value of a thorough examination of all areas visualized on CBCT scans even those beyond the region of interest.