2026· International Journal of Clinical and Experimental Pathology· Vol 19 7, pp.
352-359
· 0 citations
Medicine
TL;DR
The typical clinical symptoms, skeletal imaging features, and genetic test results of this patient ultimately confirmed the diagnosis of osteogenesis imperfecta and a multidisciplinary comprehensive individualized treatment plan was formulated and implemented for the patient, effectively alleviating clinical symptoms and improving the prognosis of the disease.
Abstract
Osteogenesis imperfecta (OI) is a rare congenital heterogeneous connective tissue disorder characterized by increased bone fragility, recurrent fractures, skeletal deformities, and short stature. Timely diagnosis and intervention can improve patients' quality of life and enhance their long-term prognosis. This study reports a case of a 26-year-old patient with OI who also had autoimmune diseases. Due to long-term treatment with glucocorticoids for autoimmune diseases, the OI was chronically missed. The typical clinical symptoms, skeletal imaging features, and genetic test results of this patient ultimately confirmed the diagnosis of osteogenesis imperfecta. At the same time, a multidisciplinary comprehensive individualized treatment plan was formulated and implemented for the patient, effectively alleviating clinical symptoms and improving the prognosis of the disease. This study reports a case of an adult patient with OI who also has an autoimmune disease. It emphasizes the need for clinicians to pay attention to the early identification and genetic diagnosis of OI in the context of co-morbidity. Multidisciplinary comprehensive treatment can significantly improve the patient's symptoms, providing a reference for the clinical diagnosis and treatment of rare hereditary bone diseases.
Rare bone diseases, though uncommon, present significant diagnostic and therapeutic challenges due to their clinical variability and overlapping symptoms with more prevalent conditions. This article describes a clinical case series of three patients with bone fragility fractures caused by rare bone diseases – primary hyperparathyroidism with brown tumor, Gorham-Stout disease, and alkaptonuria – treated at the Department of Orthopedic and Traumatology of Pisa University Hospital between 2018 and 2023. Each case highlights the diagnostic complexities, including inconclusive biopsies, nonspecific imaging findings, and the necessity of a multidisciplinary approach for accurate diagnosis and management. Advanced imaging techniques, such as MRI, CT, and PET, alongside genetic and biochemical analyses, were instrumental in guiding treatment. The cases underscore the importance of early differential diagnosis, which is critical for optimizing both surgical and non-surgical interventions, preventing long-term complications, and improving the patient outcomes. This study emphasizes the need for a collaborative, multidisciplinary approach to effectively diagnose and manage rare bone diseases, ensuring that patients receive timely and appropriate care.
V. Bottai, F. Di Sacco, M. Cordoni et al.· Acta medica Lituanica· 0 citations
Osteomalacia is a generalized bone disorder characterized by defective bone mineralization. Definitive etiological diagnoses of osteomalacia remain challenging and are not fully standardized. We aim to describe clinical, biochemical, and radiographic features, elucidate the utility of various diagnosis methods, and propose a diagnostic strategy. A retrospective study involving 33 patients with osteomalacia over a 15-year period at our Rheumatology Department. The mean age was 50.6 years (range: 17-87 years), with a female predominance (sex-ratio=0.18). Clinical signs included bone pain (87.8%), gait disturbance (63.6%), motor deficit (54.5%), clinically apparent bone deformity (21.2%), fragility fracture (24.2%), and muscle pain (42.2%). Radiologically, diffuse bone demineralization was observed in 91% of patients. Other signs included Looser Milkman streaks (60.6%), bone deformities (39.5%), and bone fractures (55%). Low bone mineral density was observed in 85% of tested patients while 60% of them had densitometric osteoporosis. Main biochemical disorders included increased alkaline phosphatase levels (85%), hypocalcemia (88%), and hypophosphatemia (61%). Parathyroid hormone levels were elevated in 82% of cases, 25-hydroxyvitamin D level was reduced in all cases. All patients in our study fulfilled both the McKenna and the Adrar indexes for osteomalacia diagnosis. Both diagnostic indexes were significantly and positively correlated (r=0.56, p=0.01). Vitamin D-related osteomalacia was the predominant etiology, with vitamin D malabsorption observed in nine patients, seven of whom had celiac disease. Chronic kidney failure was observed in five cases. Osteomalacia was associated with renal phosphate leak in four cases. The presentation and etiologies of osteomalacia are diverse. Diagnosis relies on clinical, biochemical, and radiological findings and can be aided by diagnostic indexes such as McKenna's and Adrar's. Bone biopsy should be reserved for cases where the diagnosis is doubtful.
R. Tekaya, L. Rouached, Siwar Ben Dhia et al.· Egyptian Rheumatology and Re...· 0 citations
Chronic Recurrent Multifocal Osteomyelitis (CRMO) is a rare autoinflammatory bone disorder characterized by episodic bone pain, swelling, and radiologic evidence of sterile osteolytic lesions. We report the case of a 59-year-old woman (initial symptoms at age 51) with rheumatoid arthritis and remote triple-negative breast cancer who developed bilateral tibial lesions, observed serially over an eight-year follow-up period. The bone lesions appeared spontaneously, remained for variable durations, and regressed without specific treatment, paralleling pain severity. Laboratory data showed elevated inflammatory markers, while biopsy ruled out infection and malignancy. Bone scintigraphy and MRI confirmed multifocal active bone lesions, consistent with CRMO. The case highlights the diagnostic challenges of CRMO in adults, especially in the presence of other autoimmune conditions, and emphasizes the importance of long-term imaging follow-up. This case also illustrates that CRMO may mimic malignancy or infectious osteomyelitis, yet respond well to anti-inflammatory therapy alone. Early recognition can prevent unnecessary interventions.
Mehrshad Abbasi· Asia Oceania Journal of Nucl...· 0 citations
Considering that vascular malformations represent a heterogeneous group of diseases that are often underdiagnosed, and that CLAPO syndrome may be misdiagnosed as infantile hemangiomas, the importance of early recognition of this rare condition is emphasized. This study aims to report a case of CLAPO syndrome in a pediatric patient, highlighting its clinical, diagnostic, and therapeutic aspects. To this end, a case report is presented of a 5-year-old male patient, followed longitudinally since birth, initially diagnosed with hemangioma and treated with propranolol, who was later reassessed through imaging studies, biopsy, and clinical follow-up. Thus, the presence of a capillary malformation of the lower lip associated with cervicofacial lymphatic malformations was observed, with diagnostic confirmation of CLAPO syndrome, in addition to a satisfactory clinical response to treatment with sirolimus combined with OK-432 sclerotherapy. This allows us to conclude that longitudinal clinical follow-up and the correlation between clinical and imaging findings are essential for accurate diagnosis, enabling appropriate therapeutic management and improved prognosis in patients with this condition.
Isabela Oliveira, Beatriz Minotti de Lima, Maria Paula Soares Godoy Bueno et al.· Revista de Estudos Interdisc...· 0 citations
This Review addresses this distinct patient group by recognizing the diverse facets of clinical burden, genetic landscape, bone pathophysiology, disease models and emerging treatment options by defining knowledge gaps that future investigations of this disease should aim to address.
Anastasia Sclocco, Wenyan Yang, Laura Ventura et al.· Nature Reviews Endocrinology· 0 citations
Evaluation of skeletal health in children with OI should not rely solely on BMD measurements; vertebral fractures, biochemical markers, growth, and environmental factors should also be considered.
Banu Turhan, N. Yaşar· Turkish Journal of Pediatric...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
