Q:

4/12/2012
I have a young patient with rather severe/diffuse urticaria pigmentosa. I actually wonder if he has systemic mastocytosis, as he has recently had some GI symptoms. I feel that he deserves someone with more experience with this condition than I. His parents are willing to travel. Can you recommend anyone in the pacific northwest, or west coast in general? Thank you.

A:

Thank you for your inquiry.

Unfortunately I am not aware of any physician in that geographical area who has a special interest in urticaria pigmentosa. Certainly there may be someone of whom I am not aware, but a search of the literature on urticaria pigmentosa and mastocytosis in the last few years through PubMed failed to identify anyone in this area with a special interest in urticaria pigmentosa.

However, I have two suggestions for you:

You could try the Mastocytosis Society. They have support groups on the West Coast, and their members may be aware of someone in the area who has an interest in urticaria pigmentosa. For your convenience, I have copied a link to the Mastocytosis Society website below. If you go to that website and click on the support group locator, you will be able to find at least two groups in this geographical area.

http://www.tmsforacure.org/welcome.php

As you know, Dr. Dean Metcalfe is an international authority in all forms of mastocytosis, and has written an excellent review on urticaria pigmentosa (see abstract copied below). Dr. Metcalfe may be aware of someone in your geographical area, and I would therefore suggest that you contact him directly. You may find his contact information online through the Academy website.

Thank you again for your inquiry and we hope this response is helpful to you.

Am J Clin Dermatol. 2011 Aug 1;12(4):259-70. doi: 10.2165/11588890-000000000-00000.
Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations.
Castells M, Metcalfe DD, Escribano L.
Source
Department of Medicine, Division of Rheumatology, Immunology, and Allergy, Brigham Womens Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Abstract
Cutaneous mastocytosis in children is a generally benign disease that can present at birth and is often associated with mast cell mediator-related symptoms including pruritus, flushing, and abdominal pain with diarrhea. The most common form of presentation is urticaria pigmentosa, also referred to as maculopapular mastocytosis. Flares of lesions are induced by triggers such as physical stimuli, changes in temperature, anxiety, medications, and exercise. The skin lesions are typically present on the extremities. Symptoms respond to topical and systemic anti-mediator therapy including antihistamines and cromolyn sodium. Remission at puberty is seen in a majority of cases. Progression to systemic mastocytosis with involvement of extracutaneous organs is not common. The cause of cutaneous mastocytosis is unknown and familial cases are rare. Mutations of c-kit have been observed in the skin of those affected. The diagnosis is established on clinical grounds and the findings on skin biopsy. Bone marrow studies are recommended if there is suspicion of progression of disease to an adult form, if cytoreductive therapy is contemplated, or if skin lesions remain present and/or tryptase levels remain elevated after puberty. The use of chemotherapy, including kinase inhibitors, is strongly discouraged unless severe hematologic disease is present, since malignant evolution is extremely rare.

Sincerely,
Phil Lieberman, M.D.

AAAAI - American Academy of Allergy Asthma & Immunology