A 34-year-old woman with no known medical history was evaluated for multiple painful
brown nodules and papules on the anterior aspect of the trunk. She mentioned a
history of similar cutaneous findings on her mother. Biopsies of three lesions
revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple
cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata.
The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was
corroborated by the identification of a heterozygous variant on exon 5 of the
fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor
piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is
associated with an increased risk of renal cell tumors, demanding multidisciplinary
follow-up, and personal and family counseling.
maternal education and the treatment outcomes with increasing sample size, but our results have not shown this.The limitations of this study include its retrospective nature with limited numbers, and the grouping of different tendon injuries for analysis, for example, injuries in different zones. Also, as mentioned, the complex social-economic factors associated with educational level has not been examined in detail. Future studies can explore these associations, but at present, our study would suggest the need to offer more support and counselling when treating children with lower parental educational levels.Acknowledgements The assistance provided by Osman Dag ˘, PhD, during biostatistical analysis was greatly appreciated.
Phosphaturic mesenchymal tumors are the main cause of tumor-induced osteomalacia, a distinctive paraneoplastic syndrome mediated by overproduction of fibroblast growth factor 23, that leads to renal phosphate wasting and hypophosphatemia. Diagnosis of this mesenchymal tumors is difficult and usually delayed for several years. We present the case of a 70-years-old-male with generalized bone pain, multiple pathological fractures and persistent hypophosphatemia, diagnosed with tumor-induced osteomalacia after 4 years of the onset of symptoms. The tumor was localized in the forefoot using Gallium 68-DOTANOC positron emission tomography-computed tomography and successfully surgically treated. This case report highlights the importance of recognizing these rare tumors, as early diagnosis can prevent long-term morbidity.
Abstract. We report a case of complicated sternoclavicular joint septic arthritis in a previously healthy adult with no risk factors. An 83-year-old female presented to the emergency with a 1-week history of
right shoulder pain followed by fever and prostration in the last 48 h.
Computed tomography (CT) scan findings were consistent with right sternoclavicular joint (SCJ) septic arthritis complicated by periarticular abscess. Emergent surgical debridement was performed by a surgical team composed of orthopaedic and thoracic surgeons, followed by 6 weeks of antibiotic treatment. This case highlights the diagnosis and
surgical treatment of a rare septic arthritis location but with frequent
complications as well as the importance of multidisciplinary collaboration.
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