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Camurati–Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant sclerosing bone dysplasia. Mainly the skull and the diaphyses of the long tubular bones are affected. Clinically, the patients suffer from bone pain, easy fatigability, and decreased muscle mass and weakness in the proximal parts of the lower limbs resulting in gait disturbances. The disease-causing mutations are located within the TGFβ-1 gene and expected to or thought to disrupt the binding between TGFβ1 and its latency-associated peptide resulting in an increased signaling of the pathway and subsequently accelerated bone turnover. In preclinical studies, it was shown that targeting the type I receptor ameliorates the high bone turnover. In patients, treatment options are currently mostly limited to corticosteroids that may relieve the pain, and improve the muscle weakness and fatigue. In this review, the clinical and radiological characteristics as well as the molecular genetics of this condition are discussed.

Background Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones’ diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking. Case presentation We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSAİ) treatment was administered. The patient did not respond to NSAİ treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C > G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made. Conclusion Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients’ quality of life.

Background and Objectives: Microvascular flap surgery is a widely used reconstructive technique for the repair of various defects. Biomarkers have become an essential tool for monitoring flap viability, early detection of complications, and prediction of surgical outcomes. Studies focusing on immunomodulatory cytokines in the early prediction of microvascular flap complications are lacking. We aimed to investigate the predictive value of postoperative changes in transforming growth factor beta-1 (TGF-β1) for microvascular flap complications. Materials and Methods: This prospective observational study comprised 44 adults scheduled for elective microvascular flap surgery. Preoperative blood samples for analysis were obtained before surgery, prior to the administration of intravenous fluids. Postoperative blood draws were collected after surgery, before leaving the operating room. Preoperative and postoperative serum concentrations of TGF-β1, as well as preoperative plasma albumin, total protein, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, full blood count, albumin, interleukin-6, C-reactive protein, and fibrinogen, were determined. Results: Postoperative changes in TGF-β1 were higher in cases with flap loss compared to patients with healthy recovery or patients with minor flap complications (0.403 log10 of ng/mL [0.024–0.782] vs. 0.157 [0.029–0.285] vs. −0.089 [−0.233–0.056], p = 0.002). Increased postoperative TGF-β1 was positively linked to preoperative C-reactive protein (p = 0.021), fibrinogen (p = 0.020), hematocrit (p = 0.039), and hemoglobin (p = 0.009). Conclusions: The postoperative increase in circulating TGF-β1 was associated with microvascular flap complications. Assessment of the postoperative changes in circulating TGF-β1 may be valuable for the early postoperative prediction of true flap loss.