Background Inborn errors of immunity pose a diagnostic challenge for rheumatologists, as they can masquerade as various autoimmune diseases. Maintaining a low threshold for investigation is crucial to prevent delays in diagnosis. Additionally, the atypical presentation of an X-linked disorder in a female patient is unlikely and leads to a late diagnosis and suboptimal treatment; thus, our case report aimed to raise awareness of these complex and often overlooked conditions. Case Presentation Herein, we have described the rare case of Wiskott-Aldrich syndrome, an X-linked disease, presenting in a middle-aged woman who was initially diagnosed with relapsing polychondritis. By reviewing the patient’s medical and family history, we identified key clues of immunodeficiency, a low platelet count, and a son with features consistent with Wiskott-Aldrich syndrome, which could have prompted earlier testing and recognition of her condition. Conclusion While autoimmune diseases may resemble inborn errors of immunity, a cautious examination of the patient’s familial history and atypical diagnostic odyssey may help discriminate between the diagnoses.
Introduction/Objective Oral colchicine is associated with gastrointestinal adverse effects and limited therapeutic tolerability. This study aimed to develop a colchicine- Nigella sativa oil-loaded nanoemulgel and evaluate its dermal permeation and anti-inflammatory efficacy. Methods Formulation of a nanoemulgel based on colchicine (2% w/w) and N. sativa oil (8% w/w) was done via the spontaneous emulsification method. Stability of the formulation, globule size, drug and excipient interactions, and skin permeation studies were assessed. The anti-inflammatory activity of the formulation was assessed via the carrageenan-induced paw edema model in which 36 rats were used in six different groups. Results The optimized nanoemulgel formulation showed a globule size of 152.6 ± 3.1 nm, and its stability was observed up to 3 months. In the case of the formulation, there was a remarkable reduction in paw oedema to 28.6 ± 1.9% at 4 hours ( p < 0.001), showing a 71.4% anti-edema effect. The values of cumulative permeation, flux, apparent permeability coefficient, and skin deposition were 62.9 µg/cm 2 , 2.53 µg/cm 2 /h, 3.76 × 10 −5 cm/s, and 28.7 µg/cm 2 , respectively. Discussion The enhanced anti-inflammatory activity and dermal penetration indicate synergistic effects in the action of colchicine and N. sativa oil, indicating the therapeutic potential of this drug combination. Conclusion The colchicine- N. sativa nanoemulgel demonstrated enhanced dermal delivery and significant anti-inflammatory activity in an experimental rat model. Further investigations are required to establish clinical efficacy and safety.
Background Baker's cyst is a synovial fluid-filled distension of the gastrocnemius-semimembranosus bursa, commonly associated with inflammatory and degenerative disorders of the knee. It typically extends inferiorly into the calf, whereas superior extension into the posterior thigh is rare and may mimic soft tissue neoplasms or infective collections. Case Presentation A 55-year-old man with chronic kidney disease and poorly controlled gout presented with a painless swelling over the posterior aspect of the left knee extending into the posterior thigh for one month. Serum uric acid was 9.2 mg/dL, while inflammatory markers (ESR and CRP) were elevated. Synovial fluid analysis demonstrated negatively birefringent monosodium urate crystals, whereas cytology, Gram stain, bacterial culture, and Cartridge-Based Nucleic Acid Amplification Test (CB-NAAT) for tuberculosis were negative. Magnetic resonance imaging demonstrated a large multiloculated Baker's cyst communicating with the knee joint and extending superiorly for approximately 25 cm into the posterior thigh. The patient was treated with ultrasound-guided therapeutic aspiration, oral prednisolone, and febuxostat. At three-month follow-up, the swelling had markedly reduced, inflammatory markers normalized, serum uric acid decreased to 7.0 mg/dL, and the patient remained symptom-free. Conclusion This case highlights the rare occurrence of a gout-associated Baker's cyst with extensive superior extension into the posterior thigh. MRI plays a pivotal role in defining the extent of the lesion and excluding important differential diagnoses. Early recognition and treatment of the underlying inflammatory disorder can result in excellent clinical outcomes without surgical intervention.
Introduction Sarcoidosis is a multisystem granulomatous disease of unknown etiology characterized histologically by non-caseating granulomas. Diagnosis is often by exclusion, requiring the elimination of infectious and foreign-body triggers. While bilateral hilar lymphadenopathy and elevated serum Angiotensin-Converting Enzyme (ACE) levels are suggestive, their diagnostic sensitivity and specificity are limited. Furthermore, clinical management is often guided by anecdotal evidence due to lack of randomized controlled trials, particularly in cases involving extra-pulmonary organs. Case Presentation In this case series, we describe three distinct and diagnostically challenging presentations of sarcoidosis involving critical organ systems: 1. Renal involvement : Highlights the diagnostic pathway in a patient presenting with unexplained renal insufficiency. 2. Cardiac involvement: Details the complexities of identifying sarcoidosis as the underlying cause of conduction abnormalities and arrhythmia. 3. Central nervous system (CNS) involvement: Illustrates the “masquerader” nature of neurosarcoidosis and the challenges of obtaining tissue confirmation at neurological sites. Each case highlights the diagnostic hurdles faced when classic pulmonary findings are absent or subtle, and the reliance on a high index of clinical suspicion alongside multimodal imaging. Conclusion These cases underscore the extreme clinical heterogeneity of sarcoidosis. Involvement of the renal, cardiac, and central nervous systems poses a significant diagnostic challenge, as delays in treatment can lead to significant morbidity. This series emphasizes the need for a standardized diagnostic approach and contributes to the growing body of anecdotal evidence that currently guides the management of rare extra-pulmonary manifestations of this “great masquerader.”
Background Chronic Recurrent Multifocal Osteomyelitis (CRMO) is an uncommon inflammatory bone disorder in children, characterised by sterile lesions and a relapsing course. Because its presentation overlaps with infection and malignancy, diagnosis is often delayed, especially in regions where tuberculosis is prevalent. Case Presentation A 12-year-old boy presented with a 3-month history of intermittent fever, progressive lower-limb pain, and difficulty in walking. The illness was marked by migratory joint involvement and weight loss. Examination showed localised tenderness and restricted joint movement. Laboratory evaluation revealed anaemia and elevated inflammatory markers, while microbiological and autoimmune investigations were negative. Imaging demonstrated erosive and mild osteosclerotic changes on radiographs and multifocal marrow oedema on whole-body MRI involving the femora, pelvis, and sacroiliac joints without abscess or bone destruction. Bone marrow examination excluded infection and malignancy. Based on clinical and radiological findings, this study made a diagnosis of CRMO. Initial treatment with non-steroidal anti-inflammatory drugs provided partial relief. Because the disease persisted, corticosteroids and methotrexate were introduced, resulting in marked clinical improvement and recovery of mobility. At 6 months of follow-up, the child remained asymptomatic, with improvement of inflammatory markers and no further relapse. Conclusion CRMO should be considered in children with chronic bone pain and sterile inflammatory findings. Early recognition and appropriate imaging are essential to avoid misdiagnosis and prevent long-term complications. Whole-body MRI is valuable for demonstrating multifocal disease and supporting early diagnosis, thereby avoiding unnecessary antimicrobial therapy and invasive investigations.
