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Abstract Background Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous grou...

Abstract Background The European Reference Network for rare Inherited and Congenital Anomalies (ERNICA) aims to improve care for patients with rare and complex digestive and gastrointestinal diseases across Europe throug...

Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

Abstract Background Pediatric connective tissue disease-associated interstitial lung disease (CTD-ILD) is a rare but serious condition with limited clinical data; this study aimed to evaluate its clinical features, treat...

Abstract Background The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been...

Abstract Background Children with congenital and acquired heart disease (CAHD) are at high risk for venous thromboembolism (VTE). Traditional anticoagulants such as vitamin K antagonists (VKAs) and low-molecular-weight h...

Abstract Background Wilson disease (WD) is a rare inherited copper metabolism disorder with variable prevalence worldwide. Many regions lack reliable data, leading to underestimation of burden. WD presents with hepatic, ...

Abstract Background The coexistence of renal artery stenosis (RAS) and acute tubulointerstitial nephritis (ATIN) is exceptionally rare. While imaging studies are essential for diagnosing RAS, noninvasive tests such as re...

Abstract Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+IFDCS) is an extremely rare low-grade malignant tumor. Due to its rarity and lack of specific symptoms, laboratory markers,...

Abstract Background Pilonidal sinus disease typically occurs in the sacrococcygeal region, with the intermammary location being exceptionally rare. We report the first documented case of an intermammary pilonidal sinus f...

Abstract IgG4-related disease (IgG4-RD) is a systemic inflammatory condition marked by tissue infiltration of IgG4-positive plasma cells, often resulting in fibrosis. While IgG4-RD commonly affects organs such as the pan...

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...

Abstract Background Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that is caused by C1-inhibitor (C1INH) deficiency or dysfunction. This scoping review sought to map recent advances...

Abstract Background Primary pulmonary lymphoepithelial carcinoma (PPLEC) is an extremely rare subtype of lung squamous cell carcinoma (LUSC). This study aims to comprehensively characterize clinicopathological and molecu...

Abstract Background Erythrodermic psoriasis (EP) is a severe, systemic inflammatory dermatosis. While kidney involvement is rare, the massive cytokine release associated with EP can induce systemic complications. We repo...

Abstract Background Epidermolysis bullosa (EB) is a rare genetic disorder that causes extreme skin fragility, chronic pain, and functional impairment, with major psychosocial and economic consequences. Health-related qua...

Abstract Background Small cell carcinoma is a highly aggressive neuroendocrine malignancy that most commonly arises in the lungs, gastrointestinal tract, or pancreas. Primary small cell neuroendocrine carcinoma of the en...

Abstract Background Diffuse astrocytoma (DA) is the most common intraparenchymal brain tumor, primarily occurring in the frontal and temporal lobes. However, its occurrence in the lateral ventricles is rare. Case present...

Abstract Background and aims Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by connective tissue fragility; however, respiratory manifestations such as pulmonary hemorrhage and spontaneou...