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Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disorder of the connective tissue. Despite recent attention to corneal abnormalities in OI, understanding remains limited. This study aimed to comprehensively evaluate corneal changes in a large sample of OI patients compared to controls using in vivo confocal microscopy (IVCM). Patients and Methods: Nineteen OI patients (mean age: 34.0 ± 16.00 years; 9 females, 10 males) and 20 healthy controls (mean age: 35.5 ± 12.00; 12 females, 8 males) were included, matched for age and gender. The integrity of corneal cell layers, with a focus on Bowman's layer and sub-epithelial stroma, was evaluated. Additionally, we conducted a quantitative analysis of the corneal sub-basal nerve plexus (CSNP), measuring nerve fiber density (NFD), nerve branch density (NBD), nerve fiber length (NFL), and dendritic cells (DCs) density. Clinical parameters including blue discoloration of the sclera, corneal thickness and sensitivity were also evaluated. Results: Bowman's layer alterations were observed in 42.11% of OI patients. NFD was significantly reduced in OI patients (27,3± 6.98 vs controls 37.85± 13,74 fiber/mm2; p-value=0.005). NBD and NFL were lower in OI patients but did not reach statistical significance (p=0.650 and p=0.120, respectively). DCs density was higher in OI patients than controls (11,37 ± 12.79 vs 2.09± 2,91 cells/mm2; p-value < 0.001). Corneal thickness and sensitivity were significantly reduced in OI patients compared to controls (p< 0.001, p=0.001, respectively). OI patients with blue sclera or abnormal Bowman's layer exhibited even lower central corneal thickness (CCT) (p=0.010, p=0.005, respectively). Conclusion: OI patients demonstrated Bowman's layer abnormalities, neuropathic changes and higher inflammatory cell count. These results suggest potential corneal complications, and hold promise for diagnostic applications and intervention strategies in OI. [ABSTRACT FROM AUTHOR]

Bone involvement in Hodgkin lymphoma (HL) is rare. The differential diagnosis between HL bone localization and other malignant or benign skeletal diseases is challenging. We report the case of a girl affected by classic HL, initially staged IVA because of supradiaphragmatic lymph nodes and skeletal involvement. After 6 ABVD (adriamycin, bleomycin, vinblastine, dacarbazine) cycles, positron emission tomography (PET) showed a complete metabolic response of the nodal localizations and a persistent, high metabolic activity of bone lesions. Salvage treatment followed by autologous stem cell transplant was carried out. After the transplant, the bone lesions maintained a high metabolic activity at PET. A targeted bone biopsy led to the diagnosis of a fibrous dysplasia excluding the presence of HL. To our knowledge, the concomitant presence of HL and fibrous dysplasia has not been previously reported. An in-depth evaluation of disease response to frontline treatment with a biopsy of the PET-hypercaptant bone lesions could have avoided overtreatment in this patient. [ABSTRACT FROM AUTHOR]

A 12-year-old male patient with OI type I underwent percutaneous osteotomies with the FD telescopic nail (diameter 5.6). The clinical and radiological follow-ups of the implant were satisfactory, with good bone callus formation and correct positioning of the nail. The patient was permitted to resume swimming from the 9th post-operative month, though, unbeknownst to his caregivers, he began a semiprofessional freestyle swimming training load. As a result, the patient experienced acute thigh pain with immediate functional impotence 18 months after surgery. The X-rays showed an incomplete transverse fracture in the upper middle third of the femur. The patient was subsequently placed in a long leg cast, with no weight bearing for 3 weeks, and prescribed magnetotherapy until clinical and radiological healing was reached, 2 months later. We believe this case should give pause for thought as to which indications to give these patients with regard to sports activities, and the need to increase awareness in OI patients and their families. We also believe it is best to discourage, in these particular patients, any form of semi-professional competitive activity, including competitive swimming. [ABSTRACT FROM AUTHOR]

Background : The orthodontic management of pediatric patients with rare diseases, such as Ectodermal Dysplasia (ED) and Osteogenesis Imperfecta (OI), requires complex protocols due to dental anomalies in both the number and structure of teeth. These conditions necessitate a departure from traditional orthodontic approaches, as skeletal anchoring is often required because of these anomalies. Case Presentation: A patient with ED, characterized by hypodontia and malformed teeth, presented with insufficient natural teeth for anchorage. This challenge was addressed using a Maxillary Skeletal Expander (MSE) with miniscrews. Cone-beam computed tomography (CBCT) and cephalometric radiographs were used to assess bone density, which guided the creation of a customized hybrid device. A second patient with OI, a condition causing fragile bones, had malformed teeth and a high risk of fractures. Skeletal anchoring with MSE and miniscrews was chosen to avoid damaging brittle bones. The fragile nature of the patient's bones required careful planning and close monitoring throughout the treatment process. Both patients were treated at the UOC of Pediatric Dentistry, Sapienza University of Rome, using MSE with miniscrews. Pre- and post-treatment imaging (CBCT and cephalometric radiographs) were used to evaluate bone quality and monitor progress. Skeletal anchoring successfully addressed the unique challenges in both cases, achieving outcomes comparable to those in unaffected patients. Discsussions : despite limited bone volume, MSE successfully achieved maxillary arch expansion and improved occlusion. Post-treatment radiographs showed successful maxillary expansion and alignment without complications. Conclusions: This case series highlighted the effectiveness of MSE with miniscrews in treating patients with rare diseases. It advances orthodontic management by offering reliable solutions for complex cases involving dental anomalies and compromised bone structures.