Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.
Iolanda Conde-FernandesRita SampaioFilipa MorenoJosé Palla-GarciaMaria Dos Anjos TeixeiraInês FreitasEsmeralda NevesMaria Jara-AcevedoLuis EscribanoMargarida LimaPublished in: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology (2017)
To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.