Definition & Classification Evans syndrome (ES) is a rare, life-threatening autoimmune cytopenia defined by the concurrent or sequential occurrence of two or more immune-mediated blood cytopenias, most commonly: The British Committee for Standards in Haematology (BCSH, 2023) and American Society of Hematology (ASH, 2023) emphasize that ES is a diagnosis of exclusion, requiring rigorous evaluation…
Revised with emphasis on pathophysiology, modern classification, diagnostic algorithms, and evidence-based management—updated to 2024 guidelines and literature (including recent trials and consensus statements from the Inherited Neuropathies Consortium, AAN, and EFNS/PN Society). Epidemiology & Genetic Basis Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, affecting ~1…
What is black fungus? Mucormycosis, often known as black fungus, is a very rare but hazardous fungus that infects people with weak immune systems. It causes black fungus disease. The black fungus is normally found in nature (soil, plants and rotting vegetables). This disease spread rapidly and usually fatal for the people with weak immune…
Definition and Pathophysiology Skeeter syndrome (SS) is a rare, non-infectious, IgE-mediated Type I hypersensitivity reaction to proteins in mosquito saliva—specifically allergenic polypeptides such as Aedinae salivary gland antigen-2 (Aed a 2) and anticoagulant peptides. It manifests as an exaggerated local inflammatory response following mosquito bites, typically within 2–12 hours, although onset can be delayed up…
What is McCune Albright Syndrome? McCune Albright syndrome is a genetic disorder characterized by abnormal deposits of scar-like or fibrous tissue in bones and skin along with defects in endocrine (hormone-secreting) glands of the body. Cause of McCune Albright syndrome This disorder is caused by a mutation in the GNAS gene which codes for a…
Prepared per DSM-5-TR (2022), ICD-11 (2023), and current clinical practice guidelines from the American Academy of Child and Adolescent Psychiatry (AACAP), National Institute for Health and Care Excellence (NICE), and International Consensus Statements (e.g., Volkmar et al., 2023) 1. Conceptual Framework: Asperger Syndrome is No Longer a Standalone Diagnosis 2. Core Diagnostic Criteria (DSM-5-TR, 2022)…
Definition & EpidemiologyTuberous sclerosis complex (TSC; OMIM #191100, #613254) is a rare autosomal dominant neurocutaneous phakomatosis characterized by the development of benign hamartomas in multiple organ systems. It affects ~1 in 6,000–10,000 live births, with equal gender and racial distribution. Approximately two-thirds of cases result from de novo mutations; the remainder are inherited. Penetrance is…
1. Definition and Epidemiology Brugada syndrome (BrS) is a rare, inherited primary electrical disorder characterized by a distinctive electrocardiographic (ECG) pattern—classically coved-type ST-segment elevation in right precordial leads (V1–V3)—and an increased risk of sudden cardiac death (SCD) due to polymorphic ventricular tachycardia (VT) or ventricular fibrillation (VF), often during rest or sleep. The underlying structural…
1. Definition and Terminology Cerebral cavernous malformation (CCM), also known as cavernoma, cavernous angioma, or cavernous vascular malformation, is a low-flow, capillary-level vascular anomaly of the central nervous system (CNS). It consists of dilated, thin-walled sinusoidal vascular channels lacking intervening brain parenchyma, surrounded by hemosiderin-laden macrophages and reactive gliosis. These lesions lack elastic tissue and…
1. 🔍 Definition & Pathophysiology Ebstein anomaly is a rare congenital cardiac defect characterized by downward (apical) displacement of the septal and posterior leaflets of the tricuspid valve into the right ventricle, resulting in “atrialization” of a portion of the RV and dilatation of the right atrium. Leaflets may be tethered or fenestrated, with an…
Introduction: What Is Facelift Surgery? Facelift surgery—clinically termed rhytidectomy—remains one of the most frequently requested cosmetic procedures worldwide. As facial aging progresses, structural support tissues—including collagen, elastin, and fat compartments—are gradually lost due to intrinsic aging, cumulative sun exposure (photoaging), gravitational forces, and repetitive muscular activity (e.g., smiling, frowning). This leads to visible signs such…
Myotonic dystrophy Myotonic dystrophy, also called myotonia atrophica, is the most common form of muscular dystrophy. It is an inherited disorder and affects the skeletal, smooth, and cardiac muscles of the body. Characteristic features of the disease include progressive muscle degeneration, muscle shrinkage, and weakness. Inheritance Myotonic dystrophy is an autosomal dominant trinucleotide repeat disorder….
What is neurofibromatosis? Neurofibromatosis type 1 and type 2 comes under the heading of neuro-cutaneous diseases but it not only involves the nervous system and skin but also involves multiple organs of the body. It is also associated with bony deformity and different types of tumors. The underlying pathology is an embryological defect in…
Clinical hypnotherapy is an evidence-based therapeutic approach that uses guided hypnosis—a focused, relaxed state of heightened attention and suggestibility—to support the treatment of medical, psychological, and behavioral conditions. Contrary to popular misconceptions, hypnosis is not a trance-like sleep or loss of control; rather, it is a collaborative process in which individuals remain fully aware and…
HCM is most often an autosomal dominant inherited heart muscle disease. The commonest pathogenic variants involve sarcomere-protein genes, especially MYH7 and MYBPC3, although other sarcomeric genes can also be involved. These variants lead to myocyte hypertrophy, myocyte disarray, fibrosis, impaired relaxation, ischemia, and a tendency to atrial and ventricular arrhythmias. It is important to separate…
Notifications
