Sunflower syndrome is a rare and distinctive form of generalized epilepsy characterized by highly stereotyped seizure activity that is uniquely triggered by exposure to bright light and accompanied by a…
Introduction Graft-versus-host disease (GVHD) is a life-threatening complication of allogeneic hematopoietic stem cell transplantation (HSCT) and certain solid organ transplants, characterized by an immunological attack of donor-derived immune cells against…
Overview and Pathophysiology Onychomycosis, or tinea unguium, is a chronic fungal infection of the nail unit characterized by significant morbidity, including pain, secondary bacterial infection, and psychosocial distress. While often…
Clinical Overview Cornelia de Lange Syndrome (CdLS) is a complex multi-systemic neurodevelopmental disorder characterized by significant intellectual disability, distinctive facial dysmorphism, growth retardation, and limb anomalies. It is primarily caused…
Physiology of Sweating Sweating—or perspiration—is a vital autonomic thermoregulatory function mediated primarily by eccrine sweat glands distributed across the skin. These glands are innervated by sympathetic cholinergic fibers, which release…
Pathophysiology and Molecular Genetics Krabbe disease is a severe, autosomal recessive lysosomal storage disorder caused by mutations in the GALCGALC gene (located on chromosome 14q31), which encodes the lysosomal enzyme…
Introduction and Pathophysiology Nutcracker syndrome (NCS), formally termed left renal vein entrapment syndrome, is a vascular disorder characterized by extrinsic compression of the left renal vein (LRV) between the abdominal…
Overview Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) is a rare, progressive, multisystem mitochondrial disorder primarily affecting the central and peripheral nervous systems and skeletal muscle. First described by Davies et…
Updated with Current Evidence (2023–2024 Guidelines and Landmark Studies) 1. Introduction and Pathophysiology Diamond-Blackfan Anemia (DBA; OMIM #105650) is a rare, inherited bone marrow failure syndrome (IBMFS) characterized by a…
Based on Current Evidence (2023–2024 Guidelines, ICSD-3, and Key Peer-Reviewed Literature) 1. Definition & Epidemiology Delayed Sleep/Wake Phase Disorder (DSPWD)—renamed in the International Classification of Sleep Disorders, 3rd Edition (ICSD-3)…
Definition & PathophysiologyMucus fishing syndrome (MFS) is a behavioral-ocular disorder characterized by repetitive, voluntary removal of filamentous mucus strands from the ocular surface—typically using fingers, cotton swabs, or other tools—despite…
Tricuspid atresia (TA) is a cyanotic congenital heart defect characterized by the absence or complete occlusion of the tricuspid valve, preventing normal blood flow from the right atrium to the…
Updated with Current Genetic Insights and Management Recommendations (2024) Epidemiology and Clinical Definition Russell–Silver syndrome (RSS; OMIM #180860, #601803) is a rare, clinically and genetically heterogeneous congenital growth disorder characterized…
1. Definition and Origin of the Term “Disease X” “Disease X” is a conceptual placeholder introduced by the World Health Organization (WHO) in February 2018 as part of its R&D…
Overview & Definition Eosinophilic granulomatosis with polyangiitis (EGPA), formerly known as Churg–Strauss syndrome (CSS), is a rare, systemic, necrotizing vasculitis affecting small-to-medium-sized blood vessels, characterized by: Asthma (present in >95%…
