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Dermo-distortive urticaria: an autosomal dominant dermatologic disorder
American Journal of Medical Genetics
|January 1, 1981
Summary
A new hereditary physical urticaria, dermo-distortive urticaria (DDU), causes skin swelling from repetitive skin stretching or vibration. This autosomal dominant condition presents with localized, temporary hives and sometimes systemic symptoms like faintness.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Hereditary physical urticarias are rare conditions.
- Dermo-distortive urticaria (DDU) is a newly described physical urticaria.
- Understanding its genetic basis and clinical features is important.
Purpose of the Study:
- To describe a novel hereditary physical urticaria, dermo-distortive urticaria (DDU).
- To characterize the clinical presentation and inheritance pattern of DDU.
- To differentiate DDU from other physical urticarias.
Main Methods:
- Phenotypic analysis of 219 relatives across 6 generations.
- Clinical observation of skin reactions to repetitive mechanical stimuli (vibration, stretching).
- Comparison with known hereditary and physical urticarias.
Main Results:
- DDU is characterized by localized, pruritic, edematous, and erythematosus swelling upon repetitive skin stimulation.
- Lesions appear within minutes and resolve within an hour.
- Extensive stimulation can lead to systemic symptoms including faintness, headache, and facial erythema.
- DDU follows an autosomal dominant inheritance pattern with high penetrance.
- DDU is clinically distinct from hereditary angioneurotic edema, pressure urticaria, and dermographia, but shares similarities with vibratory angioedema.
Conclusions:
- DDU is a distinct hereditary physical urticaria.
- It represents a potential model for studying heritable defects in inflammation control.
- Further research is needed to identify the specific mediator and confirm the relationship with vibratory angioedema.