Original research

Allergic manifestations and cutaneous histamine responses in patients with Mccune Albright Syndrome

Jill D Jacobson, Angela L Turpin and Scott A Sands

For all author emails, please log on.

World Allergy Organization Journal 2013, 6:9 doi:10.1186/1939-4551-6-9

Published: 1 May 2013

Abstract (provisional)

Background

McCune Albright syndrome (MAS) is a rare disorder characterized by precocious puberty, cafe-au-lait spots, and fibrous dysplasia. Its cause is an activating mutation in the GNAS gene, encoding a subunit of the stimulatory G protein, Gsalpha (Gsalpha). The action of any mediator that signals via Gsalpha and cyclic AMP can be up regulated in MAS. We had observed gastritis, gastroesophageal reflux, and anaphylaxis in McCune Albright patients.

Objective

As histamine is known to signal via histamine 1 (H1) and histamine 2 (H2) receptors, which couple with stimulatory G proteins, we attempted to mechanistically link histamine responsiveness to the activating GNAS mutation. We hypothesized that responsiveness to histamine skin testing would differ between MAS patients and healthy controls. Patients and methods After obtaining informed consent, we performed a systematic review of histamine responsiveness and allergic manifestations in 11 MAS patients and 11 sex-matched, Tannerstage matched controls. We performed skin prick testing, quantifying the orthogonal diameters of wheals and erythema. We also quantitated G protein mRNA expression.

Results

The peak wheal and flare responses to histamine were significantly higher in MAS patients compared to controls.

Conclusions

This study suggests that MAS patients may be at risk for exaggerated histamine responsiveness compared to unaffected controls.

The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production.