Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?

Osteogenesis imperfecta (OI) type VI is a rare inherited disorder of the connective tissue caused by pathogenic variants in SERPINF1 gene, which encodes the pigment epithelium-derived factor (PEDF). PEDF is implicated in many biologic processes, including an anti-cancer role. This information is supported by in vitro and in vivo studies that evidenced its anti-angiogenic, anti-tumorigenic, and anti-metastatic properties. Although OI is related to skeletal changes such as bone fragility and deformities, as well as to other connective tissue defects, it does not represent a greater predisposition to the development of skeletal tumors. Here, we report on an adult with OI in which a deletion in exon 8 of the SERPINF1 gene (c.1152_1170del; p.384_390del) was identified. The patient presented popcorn calcification in both femoral epiphyses, but one of them presented radiological characteristics and evolution suspected of malignancy. Later, it was diagnosed as chondrosarcoma. This paper discusses that OI type VI patients may be at risk of developing some types of cancer.

Ultrasound features of tophi in chronic tophaceous gout.

OBJECTIVE: To describe the different and lesser-known ultrasound features of tophi in chronic tophaceous gout. METHODS: Ultrasound images of 138 affected areas were analyzed from 31 patients with gout, using high-quality broadband linear transducers (frequency range of 8-14 MHz). Tophi were classified relative to echogenicity, echotexture, contours, number and the presence or absence of hypoechoic halo. The duration of illness was correlated with the presence of calcifications in tophi. RESULTS: Hyperechoic tophi were seen in 133 areas (96.3%); these were most frequently hyperechoic and heterogeneous (37.6%) or hyperechoic and heterogeneous with calcification (32.6%). Contours were found to be poorly defined in 115 (83.3%) areas. Multiple grouped tophi were seen in 85 areas (61.6%) and 50 areas (36.2%) had individual tophi. In 77 examined areas (55.8%), there was a hypoechoic halo around the tophi. There was no correlation between illness duration and presence of calcifications on tophi. CONCLUSIONS: Tophi are generally hyperechoic, heterogeneous, with poorly defined contours, multiple grouped and surrounded by an anechoic halo. Individual tophus and the absence of association between illness duration and the presence of calcification are newly described features. This study of tophaceous gout by ultrasound may contribute to the diagnostic elucidation of patients with clinically atypical gout and show its diverse characteristic forms of presentation.

Relevant aspects of imaging in the diagnosis and management of gout.

Gout is an inflammatory arthritis characterized by the deposition of monosodium urate crystals in the synovial membrane, articular cartilage and periarticular tissues leading to inflammation. Men are more commonly affected, mainly after the 5th decade of life. Its incidence has been growing with the population aging. In the majority of the cases, the diagnosis is made by clinical criteria and synovial fluid analysis, in search for monosodium urate crystals. Nonetheless, gout may sometimes have atypical presentations, complicating the diagnosis. In these situations, imaging methods have a fundamental role, aiding in the diagnostic confirmation or excluding other possible differential diagnosis. Conventional radiographs are still the most commonly used method in gout patients' evaluation; nevertheless, this is not a sensitive method, since it detect only late alterations. In the last years, there have been several advances in imaging methods for gout patients. Ultrasound has shown a great accuracy in the diagnosis of gout, identifying monosodium urate deposits in the synovial membrane and articular cartilage, in detecting and characterizing tophi and in identifying tophaceous tendinopathy and enthesopathy. Ultrasound has also been able to show crystal deposition in patients with articular pain in the absence of a classical gout crisis. Computed tomography is an excellent method for detecting bone erosions, being useful in spine involvement. Dual-energy CT is a new method able to provide information about the chemical composition of tissues, with high accuracy in the identification of monosodium urate deposits, even in the early stages of the disease and in cases of difficult characterization. Magnetic resonance imaging is useful in the evaluation of deep tissues not accessible by ultrasound. Besides the diagnosis, with the emergence of new drugs that aim to reduce tophaceous burden, imaging methods have become useful tools in monitoring the treatment of patients with gout.

Assessment of cervical pain and function in patients with rheumatoid arthritis.

Rheumatoid arthritis (RA) is characterized by inflammation of the synovial membrane, which can lead to deformities and functional disability. Unlike the dorsal and lumbar spine, the cervical spine is often affected by RA. The objective of this paper is to assess cervical pain and function in patients with RA and correlate these variables with overall function, quality of life, and radiographic findings on the cervical spine. One hundred individuals aged 18 to 65 years were divided into study group (50 patients with rheumatoid arthritis) and control group (50 healthy individuals, paired for gender and age). Patients with prior surgery, prior trauma or other symptomatic cervical spine condition were excluded. The visual analogue pain scale (VAS), Neck Pain and Disability Scale (NPDS), SF-36, HAQ and X-rays were used for evaluation purposes. Mean disease duration was 11.1 years. The cervical VAS was 2.4 cm and 1.3 cm for the study and control groups, respectively (p = 0.074). Statistical differences were found in NPDS scores, mean = 26.7 and 6.9, and HAQ scores, mean = 1.1 and 0.1, for the study and control groups, respectively (p < 0.001). SF-36 scores were statistically worse in the study group, except for the vitality, social aspects and mental health subscales. There was a positive correlation between the NPDS and VAS (r = 0.54) and between the NPDS and HAQ (r = 0.67). There was a negative correlation between the NPDS and SF-36 functional capacity domain (r = -0.53) and physical limitation domain (r = -0.58). The radiographic findings revealed more prevalent anterior atlanto-axial subluxation (p = 0.030), listhesis in neutral posture (p = 0.037), listhesis in extension (p = 0.007), degenerative alteration of C4-C5 segment (p = 0.023), size of C2 spinal canal (p = 0.002) and C3 spinal canal (p = 0.029) in the study group. Patients with RA have poorer cervical function than healthy individuals, although there is no difference in cervical pain.

Sonographic description and classification of tendinous involvement in relation to tophi in chronic tophaceous gout.

OBJECTIVE: To describe and classify the varied ultrasound features of tendinous involvement in relation to tophi in chronic tophaceous gout so that they are better recognised. METHODS: Ultrasound images of 138 affected areas from 31 patients with chronic tophaceous gout were analysed using high-quality broadband linear transducers. The relationship between tendon and tophi was classified, and the inter-observer agreement regarding classification was analysed. RESULTS: Tophi envelopment in the tendon was the most frequent characteristic (45%) followed by no relationship between tophi and tendon (41%), tophi at the insertion site of the tendon (7%), extrinsic compression (6%) and tophi within the tendon (1%). The inter-observer concordance on classification of the relationship between tophi and tendon was measured using McNemar's test with P < 0.001 (χ(2) = 30.0, degree of freedom = 9) and kappa test = 0.627 (P < 0.001), indicating substantial inter-observer concordance. CONCLUSION: Tophi generally envelope the tendon or there is no relationship between them. Tophi can also be found at the insertion site of the tendon, cause extrinsic compression or be located inside the tendon. There is substantial inter-observer agreement for ultrasound classification of tendon involvement by tophi. This study contributes to diagnostic elucidation and shows the diverse characteristic forms of tendon involvement by tophi.