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This PrimeView highlights the mechanisms underlying epidermolysis bullosa, a group of rare and currently incurable genetic disorders characterized by mechanical fragility of affected tissues, mostly skin.
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited genetic diseases characterized by mucocutaneous fragility and blister formation. This Primer describes the broad phenotypic spectrum of EB, including its potentially severe extracutaneous manifestations, as well as outlining the current mechanistic understanding and approaches to managing patients.
Motile ciliopathies are rare genetic diseases that result in defective beating of motile cilia on epithelial cells. This PrimeView highlights the epidemiology, mechanisms, diagnosis and management of motile ciliopathies, and summarizes possible future research.
Motile ciliopathies are rare genetic diseases that result in defective beating of motile cilia on epithelial cells. The pathogenetic mechanisms and clinical manifestations depend on the specific mutated gene and the affected tissues. When mucociliary clearance in respiratory epithelia is impaired, the disease is called primary ciliary dyskinesia.
Ulcerative colitis (UC) is a chronic inflammatory bowel disease affecting the rectum and the colon. This PrimeView describes the epidemiology, pathophysiology and diagnosis of UC, and highlights the current and emerging therapeutic strategies.
Ulcerative colitis is a chronic inflammatory bowel disease affecting the rectum and the colon. This Primer describes the epidemiology, the current understanding of ulcerative colitis pathophysiology and its diagnosis. In addition, Hibi and colleagues highlight the current and emerging therapeutic strategies and discuss the most pressing questions in the field.
The anti-neutrophil cytoplasmic antibody-associated vasculitides (AAVs) are autoimmune disorders characterized by inflammation and destruction of small blood vessels. This PrimeView summarizes AAV epidemiology, pathophysiology, diagnosis and treatment.
The anti-neutrophil cytoplasmic antibody-associated vasculitides (AAVs) are autoimmune disorders characterized by inflammation and destruction of small blood vessels. In this Primer, the authors discuss the classification of AAVs and the pathogenetic mechanisms, diagnosis and treatment of these debilitating conditions.
This illustrated PrimeView accompanies the Primer article by Gold and colleagues, and highlights the mechanisms underlying comorbid depression in individuals with medical diseases.
Major depressive disorder is common in patients with medical diseases and accounts for a substantial part of the psychosocial burden of these diseases. This Primer discusses the epidemiology, mechanisms, diagnosis and treatment of comorbid depression in patients with medical diseases.
Podocytopathies are kidney diseases in which injury to podocytes (key cells of the glomerulus, which is the filter in the kidney) result in proteinuria or nephrotic syndrome. This PrimeView highlights the changes in how these diseases are classified and treated.
Podocytopathies are kidney diseases in which podocyte injury drives proteinuria or nephrotic syndrome. This Primer discusses a shift in paradigm from patient stratification based on kidney biopsy findings towards personalized management based on clinical, morphological and genetic data.
This PrimeView highlights the mechanisms underlying Hypersensitivity pneumonitis, which is a syndrome caused by the inhalation of a variety of environmental antigens in susceptible and sensitized individuals.
Hypersensitivity pneumonitis (HP) is a complex syndrome caused by the inhalation of a variety of environmental antigens in susceptible and sensitized individuals. This Primer discusses recent advances in our understanding of HP epidemiology and pathogenesis as well as the current diagnostic and therapeutic modalities.
This PrimeView highlights the genetic cause of the Ehlers–Danlos syndromes, a group of genetic disorders that are characterized by joint hypermobility, soft and hyperextensible skin, poor wound healing, easy bruising and other symptoms.
The Ehlers–Danlos syndromes are a group of genetically heterogeneous connective tissue disorders with a wide range of clinical manifestations. This Primer discusses the epidemiology, mechanisms, diagnosis and treatment of these syndromes.
Overall, Hodgkin lymphoma (HL) is a rare B cell malignancy, but it is one of the most common cancers in adolescents and young adults. HL is associated with very high cure rates, even in advanced-stage disease.
Hodgkin lymphoma (HL) is a B cell lymphoma characterized by few, large, multinucleated malignant cells in the tumour microenvironment, which is rich in normal immune effector cells. HL mostly occurs in young adults and has high cure rates.
This PrimeView highlights how mutations in genes encoding proteins that are involved in the regulation of the cardiac action potential can result in inherited cardiac arrhythmias.
Long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome are rare but potentially life-threatening inherited cardiac arrhythmias. These disorders are caused by mutations in several genes encoding ion channels or proteins involved in their regulation.
