Genetics Home Reference :
25
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area. The reaction can be brought on by towel drying, hand clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation. Headaches, fatigue, faintness, blurry vision, a metallic taste in the mouth, facial flushing, and more widespread swelling (especially of the face) can also occur during these episodes, especially if the stimulation is extreme or prolonged. The reaction occurs within a few minutes of the stimulation and generally lasts up to an hour. Affected individuals can have several episodes per day.
MalaCards based summary :
Vibratory Urticaria, also known as
vibratory angioedema, is related to
physical urticaria and
dermographism, familial. An important gene associated with Vibratory Urticaria is
ADGRE2 (Adhesion G Protein-Coupled Receptor E2), and among its related pathways/superpathways are
Presynaptic function of Kainate receptors and
GPCRs, Other. Affiliated tissues include
skin and
testes, and related phenotypes are
urticaria and
facial erythema
NIH Rare Diseases :
52
Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste in the mouth during episodes of skin involvement. Common triggers include mowing the lawn, riding a motorcycle, horseback riding, or mountain biking. Vibratory urticaria is caused by changes (mutations ) in the ADGRE2 gene and appears to be inherited in an autosomal dominant manner. Treatment involves avoiding vibration stimulus and use of antihistamines .
OMIM :
56
Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum (Boyden et al., 2016).
(125630)
KEGG :
36
Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory nature. A local stimulus of sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation of mast cells in their pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells.
UniProtKB/Swiss-Prot :
73
Vibratory urticaria: An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.
Wikipedia :
74
Hives, also known as urticaria, is a kind of skin rash with red, raised, itchy bumps. They may also burn...
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