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Delayed cold-induced urticaria: a dominantly inherited disorder
The Journal of Allergy and Clinical Immunology
|April 1, 1977
Summary
A rare delayed skin reaction to cold exposure, causing swelling and redness hours later, was observed in a family. Genetic analysis suggests this condition is inherited in an autosomal-dominant pattern.
Area of Science:
- Dermatology
- Immunology
- Genetics
Background:
- A delayed cutaneous response to cold, characterized by erythematous, edematous deep swelling 9-18 hours after ice challenge, was identified.
- This phenomenon was observed in a 10-year-old boy and other family members.
Observation:
- Biopsies of cold-induced lesions revealed edema and mononuclear cell infiltration.
- Immunofluorescence studies showed normal mast cells, and no immunoglobulins, complement factors, or fibrin were detected.
- Local cold challenge did not trigger histamine release or alter complement system enzymes.
Findings:
- The delayed cold response could not be passively transferred via serum or tissue extracts to monkey skin.
- Family studies indicated an autosomal-dominant mode of inheritance for this condition.
Implications:
- This suggests a non-allergic, non-immunoglobulin-mediated mechanism for cold hypersensitivity.
- Understanding the genetic basis is crucial for diagnosing and managing this familial cold-induced skin reaction.
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