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%…
Genetic Basis & Molecular Pathophysiology PURA syndrome (OMIM #616513) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the PURA gene (Pur-alpha homolog, Drosophila; OMIM: 602479), located…
1. Nomenclature & Classification Grayson–Wilbrandt Corneal Dystrophy (GWCD; OMIM #618546), often informally referred to as “Grayson’s Syndrome,” is a very rare, autosomal recessive corneal dystrophy classified under the mitochondrial subtype…
Definition and Pathophysiology Median Arcuate Ligament Syndrome (MALS), also known as celiac artery compression syndrome or superior mesenteric artery (SMA)–aorta compression variant, is a rare, mechanically mediated vascular disorder characterized…
Definition and EpidemiologyKlippel–Trenaunay syndrome (KTS; OMIM #150800) is a rare, non-hereditary congenital disorder characterized by a triad of features: Capillary malformation (port-wine stain) Venous malformations and/or venous anomalies Soft tissue…
