Systemic mastocytosis is a rare disease involving the infiltration and accumulation of active mast cells within any organ system. By far, the most common organ affected is the skin. Cutaneous manifestations of mastocytosis, including Urticaria Pigmentosa (UP), cutaneous mastocytoma or telangiectasia macularis eruptive perstans (TMEP), may indicate a more serious and potentially life-threatening...

Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this...

which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Mast cell diseases are difficult to diagnose due to its protean symptoms and presence of coexisting conditions [1]. Symptoms are associated with clonal proliferation of mast cells and include from mild flushing to cardiac arrest following anaphylactic reacti...

Mastocytosis is a rare, heterogeneous disease of complex etiology, characterized by a marked increase in mast cell density in the skin, bone marrow, liver, spleen, gastrointestinal mucosa and lymph nodes. The most frequent site of organ involvement is the skin. Cutaneous lesions include urticaria pigmentosa, mastocytoma, diffuse and erythematous cutaneous mastocytosis, and telangiectasia macula...

Mast cell clonal disorders are characterized by the clonal proliferation of pathological mast cells as a result of somatic mutations in the KIT gene, most commonly the D816V mutation. Accumulation and degranulation of these cells causes a wide variety of symptoms. Mast cell clonal disorders can be divided into mastocytosis and monoclonal mast cell activation syndrome, depending of the level of ...

Since the identification of the FIP1L1/PDGFRA fusion gene as a pathogenic cause of the hypereosinophilic syndrome (HES), the importance of the molecular classification of HES leading to the diagnosis of chronic eosinophilic leukemia (CEL) has been recognized. As a result, a new category, ‘myeloid and lymphoid neoplasm with eosinophilia and abnormalities in PDGFRA, PDGFRB or FGFR1’, has recently...