Explore the vast range of titles available.

Background Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in genes involved in type I collagen production. We report a 27-year-old female with genetically confirmed OI type XI (OI-XI) who experienced a delayed diagnosis of seropositive rheumatoid arthritis (RA), resulting in irreversible deformities. Case presentation The patient had multiple congenital contractures and became wheelchair-dependent in early childhood. She received only one course of bone protection therapy in her lifetime. Two years prior to presentation, she developed bilateral hand pain, stiffness, and progressive deformities. The diagnosis of RA was confirmed based on clinical features, imaging, and high titers of anti-cyclic citrullinated peptide (anti-CCP) antibodies. Genetic analysis revealed a homozygous FKBP10 mutation (c.391 + 4 A > T), confirming OI-XI. Treatment with methotrexate, folic acid, and vitamin D led to symptom improvement and stabilization of deformities. Conclusions This is the first reported case of RA in a patient with genetically confirmed OI-XI. The case underscores the importance of early detection and treatment of RA in individuals with OI to prevent irreversible joint damage. Clinical trial number Not applicable.

Shrinking lung syndrome (SLS) is a rare complication of autoimmune and connective tissue diseases like systemic lupus erythematosus (SLE). A 35-year-old female patient, diagnosed with SLE, came to the hospital complaining of severe dyspnea and pleuritic pain for several months that was worsening on exertion. Imaging (X-ray and CT scan) of the chest at the time of presentation showed bilateral basal atelectasis with elevated diaphragm. Pulmonary function test (PFT) showed restrictive findings including forced expiratory volume in the first second (FEV1) of 37%, total lung capacity of 40%, and vital capacity of 32% predicted with a restrictive pattern on flow volume loop confirming the diagnosis of SLS. The treatment focused on methotrexate and rituximab. Patients with a known history of SLE who start respiratory symptoms like cough and dyspnea should be ruled out of SLS at the earliest as it can be deadly in the later stages.

Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene. We present a case of a 35-year-old Palestinian male with adenosine deaminase 2 deficiency and maturity-onset diabetes of the young type 2. The patient initially presented with complaints of swelling in his neck and night sweats, leading to a diagnosis of Hodgkin lymphoma. Subsequent evaluation revealed a recurrence of Hodgkin lymphoma, along with symptoms of otitis media, upper respiratory tract infection, and a rash around the mouth. Genetic testing confirmed mutations in the adenosine deaminase 2 gene and glucokinase genes, confirming the diagnosis of deficiency of adenosine deaminase 2 and maturity-onset diabetes of the young type 2, respectively. The patient was treated with Intravenous immunoglobulin, antiviral drugs, and oral hypoglycemic drugs, showing improvement in symptoms and laboratory tests. This case highlights the importance of considering rare genetic disorders in patients with unusual or refractory clinical manifestations, and the need for a multidisciplinary approach in such cases.

Adenocarcinoma is a rare form of urinary bladder cancer, comprising only 2% of cases, with various histological patterns and levels of differentiation. Among these, clear cell adenocarcinoma is the least common. Contrary to other subtypes, clear cell adenocarcinoma of the bladder has been shown to have a female predominance, and typically presents at the age of 60 after being incidentally discovered on radiological and urinary studies. However, signs and symptoms such as visible and non-visible hematuria, and signs and symptoms of urinary tract infection refractory to antibiotic treatment could occur and clue into the diagnosis. Although imaging can reveal and characterise the lesion, definitive diagnosis requires cystoscopy with biopsy. The treatment of adenocarcinoma of the bladder often requires surgical resection, with adjuvant chemotherapy being utilized in a subset of patients. We report a 79-year-old patient complaining of gross hematuria. Ultrasound was performed and showed a calcified mass at the dome of the urinary bladder, which was confirmed by computerized tomography of the abdomen and pelvis. Subsequent cystoscopy confirmed the diagnosis of clear-cell adenocarcinoma and the tumor was resected using a trans-urethral approach. Radical cystectomy with regional lymphadenectomy and adjuvant chemotherapy were used as the primary therapeutic modality.

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease primarily affecting the joints and, to a lesser extent, other systems. Renal involvement in RA is rare and might be due to the presence of systemic inflammation or the toxic effect of the medications used. Of the many types of renal diseases that can affect RA patients, focal segmental glomerulosclerosis (FSGS) is rarely encountered. In this report, we present a rare co-existence of RA and FSGS in a 50-year-old female with RA who was found to have FSGS as a possible cause of proteinuria and an extraarticular manifestation of RA. The patient's RA started as palindromic rheumatism, which progressed later to chronic symmetrical polyarthritis of the small and large joints. Along with the flare of her joint disease, she was found to have lower limb edema. Her workup showed persistent proteinuria of more than one gram per day. Renal biopsy showed unexpected findings of FSGS. Our patient was treated with tapering doses of steroids, methotrexate, candesartan, and a diuretic that controlled joint disease, blood pressure, and proteinuria. Follow-up at two years showed normal kidney function tests, a significant decline in proteinuria, and controlled joint disease. Our case portrays a possible relationship between FSGS as a cause of proteinuria in patients with RA. Physicians should be aware of the possibility of FSGS in RA patients, which can affect the management plan, medication efficacy, and overall prognosis.

Ewing’s sarcoma, a rare primary bone malignancy primarily affecting adolescents and young adults, typically manifests in the pelvic bones and femur. Primary Ewing’s sarcoma of the sternum is exceptionally rare, constituting less than 1% of cases. We present a case of a 34-year-old man with a 2-month history of anterior chest wall pain initially attributed to muscular spasm. Subsequently, the patient developed a palpable mass and imaging demonstrated a mid-lower sternal lesion with cortical destruction and soft tissue involvement, confirmed as Ewing’s sarcoma on biopsy. In addition, a suspicious lesion was identified in the left distal tibia, which was histologically confirmed as a metastasis from the primary sternal sarcoma. Neoadjuvant chemotherapy preceded partial sternotomy with rib resection and reconstruction, achieving clear surgical margins. Postoperative evaluation showed shrinkage in the sternal lesion and near-resolution of the tibial metastasis. Subsequent chemotherapy cycles resulted in no evidence of the disease on the follow-up positron emission tomography scan. This case underscores the diagnostic challenges of primary sternal Ewing’s sarcoma and emphasizes the importance of early recognition and comprehensive evaluation in managing such rare presentations.