Peutz-Jeghers Syndrome
Overview Definition Peutz-Jeghers syndrome (PJS) is an autosomal-dominant inherited disorder defined by gastrointestinal, hamartomatous polyps, and skin/mucosal melanin macules. Epidemiology Etiology Pathophysiology Clinical Presentation History Physical examination Diagnosis Management Observation Surgical management Complications Prognosis Differential Diagnosis References
Familial Adenomatous Polyposis
Overview Definition Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that is associated with the development of numerous colorectal adenomas. Epidemiology Etiology Pathogenic mutations in the tumor suppressor gene adenomatous polyposis coli (APC) in chromosome 5 on band 5q21: Pathophysiology Clinical Presentation History Findings Risk of FAP-related tumors Variants There are 4 syndromes from […]
Parapharyngeal Abscess
Overview Definition Parapharyngeal abscess is a deep neck infection involving the parapharyngeal space. Epidemiology Risk factors Etiology Pathophysiology The layers of the deep cervical fascia represent the potential routes of spread of infections. Clinical Presentation and Diagnosis History Physical exam Diagnostic testing Management and Complications The initial management focuses on airway stabilization. Infections are polymicrobial […]
Hypertension
Overview Definition Hypertension is defined as a BP > 130/80 mm Hg. Epidemiology Etiology Primary hypertension: The pathogenesis of primary hypertension is poorly understood but is most likely the result of numerous genetic and environmental factors affecting cardiovascular and kidney structure and function. Risk factors: Secondary hypertension: Classification Table: Classification of hypertension (2017 JNC 8 […]
Herpes Simplex Virus 1 and 2
Classification General Characteristics and Epidemiology Basic features of herpes simplex virus Clinically relevant species Two types have been recognized to cause infections: Epidemiology HSV-1: HSV-2: Neonatal herpes infection: Pathogenesis Reservoir Humans are the main reservoir. Transmission HSV-1: HSV-2: Pathophysiology Primary infection: Lifetime latency: Reactivation: Pathology Herpes simplex viruses cause cytolytic infections that form the basis […]
Gitelman Syndrome
Overview Definition Gitelman syndrome (GS) is a rare genetic autosomal recessive disorder that affects the thiazide-sensitive Na+–Cl– cotransporter (NCC) in the distal convoluted tubule (DCT), leading to a salt-wasting tubulopathy. Epidemiology Etiology Pathophysiology Normal physiology in the DCT The DCT is the smallest portion of the duct system in a nephron. It measures about 5 mm […]
Ehlers-Danlos Syndrome
Overview Definition Ehlers-Danlos syndrome (EDS) is a group of 13 inherited connective tissue disorders of collagen processing or synthesis. The syndrome is clinically heterogeneous and can affect the skin, joints, blood vessels, and other tissues and is characterized by the following: Epidemiology Etiology and pathophysiology Classification This list of classifications is not exhaustive; it includes […]
Acute Myeloid Leukemia
Overview Definition Acute myeloid leukemia (AML) is a hematologic malignancy characterized by the pathological proliferation of myeloid precursor cells in the bone marrow and subsequent displacement of other blood cell precursors. Classification The World Health Organization (WHO) classification system is based on multiple factors, including morphology, genetics, and clinical features: AML with recurrent genetic abnormalities […]
Sexual Abuse
Overview Definitions Epidemiology Classification Clinical Presentation and Diagnosis The patient should be approached in a nonjudgmental and respectful manner. In addition to psychological consequences, sexual assault can be associated with unintended pregnancy, STIs, and physical injury. History Physical examination Management Patients who present with a report of sexual assault or abuse need proper examination, testing, […]
Testicular Cancer
Overview Epidemiology Testicular neoplasms are the most common tumor in men 15–35 years of age: Germ cell tumors (GCTs) comprise 95% of all testicular cancers. Most commonly presents as localized seminoma in about 50% of cases Only 10%–30% of patients will have metastatic disease. Annual incidence in the United States: 6 in 100,000 men: Incidence […]