The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1245-1250 , December 2009

Familial atypical cold urticaria: Description of a new hereditary disease

  • Chhavi Gandhi, MD

      Affiliations

    • Division of Rheumatology, Allergy, and Immunology, University of California, San Diego, La Jolla, Calif
    • ,
  • Chris Healy, MD

      Affiliations

    • University of Wisconsin Health Allergy and Asthma, Madison, Wis
    • ,
  • Alan A. Wanderer, MD

      Affiliations

    • Allergy and Asthma Consultants of Montana, Bozeman, Mont
    • ,
  • Hal M. Hoffman, MD

      Affiliations

    • Division of Rheumatology, Allergy, and Immunology, University of California, San Diego, La Jolla, Calif
    • Children's Specialists of San Diego, Rady Children's Hospital, San Diego, Calif
    • San Diego Branch, Ludwig Institute of Cancer Research, La Jolla, Calif
    • Corresponding Author InformationReprint requests: Hal M. Hoffman, MD, 9500 Gilman Dr, Mail code 0635, La Jolla, CA 92093-0635.

Received 18 July 2009 ,Revised 10 September 2009 ,Accepted 18 September 2009.

  • Image Result

    Family Pedigrees: family A, B, C. Filled symbols represent affected individuals, open symbols represent unaffected individuals.

    Family Pedigrees: family A, B, C. Filled symbols represent affected individuals, open symbols represent unaffected individuals.

  • Image Result

    Cutaneous manifestations of 2 affected siblings from family B (A and B) and 1 affected child from family A (C). Fig 2, A, Sixteen-month-old boy after a 5-minute exposure to 5°C atmosphere outdoor expo

    Cutaneous manifestations of 2 affected siblings from family B (A and B) and 1 affected child from family A (C). Fig 2, A, Sixteen-month-old boy after a 5-minute exposure to 5°C atmosphere outdoor exposure followed by 5 minutes at room temperature. Fig 2, B, Thirty-four-month-old boy at room temperature for 2 hours, crying. Fig 2, C, Four-year-old girl bathing indoors at room temperature.

  • Image Result
    Negative CSTT result and demonstration of evaporative cooling-induced symptoms. A, CSTT performed for 5 minutes with 5 minutes of rewarming without the development of a wheal. B, Water droplet after 1

    Negative CSTT result and demonstration of evaporative cooling-induced symptoms. A, CSTT performed for 5 minutes with 5 minutes of rewarming without the development of a wheal. B, Water droplet after 10 minutes of occlusion without any cutaneous manifestations. C, Water droplet after being exposed to compressed air for less than 1 minute with marked erythema and pruritus. Testing with 100% ethanol yielded similar results.

  • Image Result
    Skin biopsy specimens before and after cold challenge stained for mast cell tryptase. A, Patient skin at room temperature for 3 hours with mast cells with visible granules throughout the dermis. B, Pa

    Skin biopsy specimens before and after cold challenge stained for mast cell tryptase. A, Patient skin at room temperature for 3 hours with mast cells with visible granules throughout the dermis. B, Patient skin after 15 minutes of exposure to 5°C with mast cells that appear degranulated throughout the dermis and around vasculature. C, Unrelated normal control skin after 30 minutes of exposure to 5°C.

 Supported by National Institutes of Health training grant T32 A107469 and the University of California, San Diego, Department of Pediatrics Opportunity Research Grant.

 Disclosure of potential conflict of interest: C. Healy receives honoraria from GlaxoSmithKline and Schering-Plough. H. M. Hoffman is a consultant for Regeneron Pharmaceuticals and Novartis Pharmaceuticals. The rest of the authors have declared that they have no conflict of interest.

PII: S0091-6749(09)01436-5

doi: 10.1016/j.jaci.2009.09.035

The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1245-1250 , December 2009

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