Systemic mastocytosis is a clonal disorder of the mast cell and its progenitor cell. It is a rare disorder with unknown incidence in Greece, with an estimate of 2 cases per year in Great Britain. We present a case of an asymptomatic, 72-year-old man who was found to have ileocolitis on endoscopy. Histology revealed mast cells in lamina propria >15 HPF and biochemistry showed high levels of seru...

Although a role for oncogenic KIT in driving mast cell disease is clear, the mechanisms driving the multiple phenotypic and clinical manifestations of this disorder are not well elucidated. We now show, using a large cohort of mastocytosis patients, including an almost equal number of aggressive and nonaggressive cases of systemic mastocytosis, that in contrast to the oncogenic KITD816V, TET2 m...

1. Pardanani A, Tefferi A. Proposal for a revised classification of systemic mastocytosis. Blood. 2010;115(13):2720-2721. 2. Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25(7):603-625. 3. Valent P, Akin C, Escribano L, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics,...

Hepatic involvement in aggressive systemic mastocytosis (ASM) is relatively common, and the main clinical features of this disease include hepatomegaly, portal hypertension, ascites, and fibrosis. Cirrhosis is a rare ASM symptom. We report an ASM case that initially mimicked cirrhosis based on clinical and radiographic analyses. The portal tract was expanded by mononuclear inflammatory cells, an...

Since the critical care physician will most likely be involved in a life-threatening expression of systemic mastocytosis, recognition of this disease is of utmost importance in the critical care management of these patients. Mastocytosis is a severely under-recognized disease because it typically occurs secondary to another condition and thus may occur more frequently than assumed. In this arti...

BACKGROUND Patients with chronic kidney disease have been reported to have increased concentrations of blood tryptase. Detection of tryptase in the urine of healthy subjects has been reported. OBJECTIVE The objective is to determine whether tryptase is indeed cleared by the kidneys. METHODS Blood and urine collections were performed in healthy and systemic mastocytosis subjects. Total and m...

Cutaneous mastocytosis (CM) in children is a usually benign skin disorder caused by mast cell proliferation. Progressive disease leading to systemic involvement and fatal outcomes has been described. C-kit receptor mutations have been identified as causative for CM, some of which potentially respond to imatinib treatment as described for patients with systemic mastocytosis. We report successful...

diagnosis or during follow-up. Our twins were unusual because of the onset of cutaneous lesions during adult life. One had systemic symptoms presumed to be related to the release of mast cellederived mediators (histamine, prostaglandins), but neither had evidence of extracutaneous disease. Age at onset influences the clinical behavior of mastocytosis. Pediatric mastocytosis often resolves spont...

Accepted 15 July 2009 Published Online First 2 September 2009 ABSTRACT A case of systemic mastocytosis associated with a clonal haematological non-mast cell lineage disease (SMAHNMD), where the associated disease is acute erythroid leukaemia (erythroid/myeloid type), is reported. Interestingly, molecular studies showed the KIT mutation not only in the mast cells, but also in the myeloid blast p...