autosomal dominant vibratory urticaria

Autosomal dominant vibratory urticaria is a very rare condition characterized by localized hives and systemic symptoms triggered by skin vibration. The condition is caused by alterations in the ADGRE2 gene, which plays a role in mast cell regulation and degranulation. Most individuals present with immediate skin reactions, including facial redness and flushing, when exposed to vibration. Given its rarity, affecting fewer than 1 in a million people, careful clinical evaluation is essential.

The hallmark features of this condition include persistent facial erythema, flushing, and urticaria, which are observed in all affected individuals. These symptoms typically appear upon exposure to vibratory stimuli, resulting in rapid mast cell degranulation and subsequent histamine release. Not all individuals experience systemic manifestations beyond the skin findings, and severity varies considerably from one person to another.

This condition is linked to pathogenic variants in the ADGRE2 gene. In a normally functioning state, ADGRE2 is involved in the signaling pathways that regulate mast cell activation. When variants occur in this gene, the control over mast cell degranulation is disrupted, leading to the characteristic rapid release of histamine in response to mechanical stimulation. Being inherited in an autosomal dominant pattern means that each affected individual has a 50% chance of passing the variant on to their offspring.

Currently, management focuses on supportive care and symptom relief as no specific foundational or targeted therapies have been approved for this condition. Treatment is tailored to the individual and typically involves strategies to minimize exposure to vibratory triggers and manage the acute allergic responses when they occur. Patients are encouraged to work with their healthcare team to address symptoms and to consider genetic counseling to discuss the implications of autosomal dominant inheritance.

The overall outlook for individuals with autosomal dominant vibratory urticaria varies, with severity and symptoms differing widely between affected individuals. With current standards of care, many patients are able to manage their symptoms effectively, although periodic episodes may still occur. Outcomes described in medical literature continue to evolve as standards of care improve. Families are advised to seek genetic counseling and connect with experts familiar with this condition to better understand their options for ongoing care and management.