it is also known as congenital hypoplasminogenemia, is a rare autosomal recessive disorder characterized by a marked reduction in plasminogen activity, which leads to the abnormal accumulation of fibrin-rich pseudomembranes on mucous membranes and other tissues. The disease often manifests early in life and can affect various organs, with serious implications for ocular, respiratory, and
it is a highly infectious zoonotic disease caused by the bacterium Yersinia pestis. Historically known for causing devastating pandemics such as the Black Death in the 14th century, plague continues to pose a public health risk in certain parts of the world today. It is transmitted primarily through flea bites, direct contact with infected animals,
Pituitary-dependent Cushing’s disease is a specific subtype of Cushing’s syndrome caused by excessive secretion of adrenocorticotropic hormone (ACTH) from a pituitary adenoma, typically a microadenoma. This leads to chronic overstimulation of the adrenal glands and hypercortisolism, resulting in a wide array of systemic complications. Early recognition, accurate diagnosis, and appropriate treatment are crucial to improving
Pinta is a chronic, non-venereal infectious skin disease caused by Treponema carateum, a bacterium closely related to the causative agent of syphilis. This condition is endemic to certain rural and tropical areas, primarily affecting populations in Central and South America. Pinta is classified among the endemic treponematoses, along with yaws and bejel, and is recognized
PIK3CA-related overgrowth spectrum (PROS) comprises a group of rare disorders characterized by somatic mutations in the PIK3CA gene, leading to abnormal tissue growth in multiple organ systems. These disorders exhibit a wide phenotypic spectrum, primarily due to mosaic postzygotic mutations, which result in localized, asymmetric overgrowth affecting various body parts. Understanding the Genetic Basis of
Philadelphia chromosome-positive chronic myelocytic leukemia (Ph+ CML) is a hematopoietic stem cell disorder characterized by unregulated myeloid cell proliferation, resulting from the formation of the BCR-ABL1 fusion gene. This molecular abnormality is the hallmark of CML and plays a central role in its pathogenesis, diagnosis, and treatment. Pathogenesis of Ph+ CML: The Role of BCR-ABL1
Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) represents a high-risk subtype of ALL, characterized by the presence of the BCR-ABL1 fusion gene resulting from a translocation between chromosomes 9 and 22. This genetic anomaly drives aggressive leukemic proliferation and has historically been associated with poor prognosis. However, with the advent of tyrosine kinase inhibitors (TKIs)
Pheochromocytoma is a rare catecholamine-producing tumor that arises from the chromaffin cells of the adrenal medulla. It is characterized by excessive secretion of epinephrine, norepinephrine, and, less commonly, dopamine, leading to potentially life-threatening hypertension and multisystemic complications. Early recognition, accurate diagnosis, and prompt intervention are critical for favorable outcomes. Origin and Pathophysiology of Pheochromocytoma Pheochromocytomas
Phenylketonuria (PKU) is a rare but serious autosomal recessive metabolic disorder that affects the body’s ability to metabolize the amino acid phenylalanine. Without prompt diagnosis and dietary intervention, PKU can result in irreversible intellectual disability and neurological impairment. This article presents a detailed, evidence-based overview of PKU, its pathophysiology, clinical features, diagnosis, management, and preventive
Pharyngitis Due to Streptococcus pyogenes: Pharyngitis caused by Streptococcus pyogenes, also known as Group A Streptococcus (GAS), represents one of the most common and clinically significant bacterial throat infections. Prompt diagnosis and treatment are essential to reduce symptoms, prevent complications, and limit transmission. Understanding Streptococcus pyogenes and Its Pathogenic Role Streptococcus pyogenes is a gram-positive,