Related Experiment Video
Updated: Jun 6, 2026
12:23
Granulocyte-dependent Autoantibody-induced Skin Blistering
Published on: October 12, 2012
Hypocomplementemic urticarial vasculitis syndrome in three siblings.
Z Birsin Ozçakar1, Fatoş Yalçınkaya, F Semsa Altugan
1Ankara University School of Medicine, Cebeci, Ankara, Turkey. zbozcakar@yahoo.com
Rheumatology International
|November 30, 2010
Summary
Familial hypocomplementemic urticarial vasculitis syndrome (HUVS) is rare, with this report detailing the first three pediatric siblings diagnosed. Genetic factors likely play a role in this vasculitis.
Area of Science:
- Rheumatology
- Genetics
- Pediatrics
Background:
- Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare autoimmune condition typically diagnosed in adults.
- Pediatric cases of HUVS are exceptionally uncommon in medical literature.
Observation:
- This report presents the first documented familial cases of HUVS in three siblings.
- All three siblings experienced disease onset during childhood.
- One sibling developed severe renal complications and unfortunately passed away.
Findings:
- The remaining two siblings exhibit persistent skin and ocular manifestations.
- The elder sibling also developed lupus erythematosus.
- The occurrence of HUVS in multiple siblings strongly suggests a genetic predisposition.
Implications:
- This case series highlights the potential role of genetic factors in the pathogenesis of HUVS.
- It underscores the importance of considering genetic evaluations in pediatric patients with atypical vasculitis presentations.
- Further research into the genetic underpinnings of HUVS may lead to improved diagnostic and therapeutic strategies.
Related Concept Videos
01:19Hypersensitivity Reactions: Immune-Complex Reactions
Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum sickness, a systemic...
01:27Complement System
The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a membrane...
01:01Hypersensitivity Reactions: Cytolytic Reactions
Type II hypersensitivity involves IgG and IgM antibodies targeting cell surface antigens, leading to cell destruction. This can occur through complement activation, antibody-dependent cell-mediated cytotoxicity (ADCC), or acting as opsonins for phagocytosis. When excessive, these reactions cause significant tissue damage.Drug-induced hemolytic anemia is a common example, where drugs like penicillin or cephalosporins bind to red blood cells, forming drug-protein complexes. These complexes...
01:25Endocarditis II: Clinical Features of Infective Endocarditis
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
01:30Hypersensitivities
Hypersensitivity, also known as a hypersensitivity reaction or allergic reaction, is a condition where the body's immune system reacts abnormally to a foreign substance. Such substances, that cause hypersensitivity are referred to as an allergen, could be something typically harmless to most people, like pollen or certain foods.
Types of Hypersensitivities
Hypersensitivity reactions are categorized into four types: Type 1, Type 2, Type 3, and Type 4. Each type has a distinct mechanism...
Types of Hypersensitivities
Hypersensitivity reactions are categorized into four types: Type 1, Type 2, Type 3, and Type 4. Each type has a distinct mechanism...
01:21Cytotoxic Edema: Pathophysiology
Cytotoxic edema is a form of cerebral edema characterized by intracellular swelling of neurons, astrocytes, and other glial cells. It develops when the mechanisms responsible for maintaining ionic gradients across the cell membrane become impaired. Under normal physiological conditions, the sodium–potassium ATPase actively transports sodium ions out of the cell and potassium ions into the cell, preserving osmotic balance and enabling electrical signaling. This pump requires a continuous supply...