Methods: We report two cases of patients with this disease who were not diagnosed at first. A 51 years old female, who noticed 20 years ago, the appareance of itchy "spots” in thorax, abdomen and extremities, progressively increasing in number and size, receiving unspecified treatments without improvement. On examination, we found brown macules with sharp borders, 0.3-0.5cm erythema and Darier´s sign, disseminated lesions on thorax, shoulders and extremities.
A 45 years old female, who noticed 2 years ago, the appareance of freckles in neck, arms, thorax and legs progressively increasing in number, who in stress are itchy. Receiving multiple treatments without improvement. On examination disseminated brown macules with sharp borders <0.5cm with Darier´s sign.
Results: In both patients the biopsies taken findings compatible with mastocytosis (inflammatory infiltrate with perivascular lymphocytes, histiocytes and mast cells). Mast cells were not quantified. We realized a genetic study in search of c-kit mutation. Once the diagnosis was considered and treated accordingly, they had a good control of symptoms.
Conclusions: Mastocytosis is diagnosed by clinical features and histological infiltrate of mast cells. The skin is the organ most frequently affected. These patients previously received multiple treatments with no clinical improvement suggest inadecuate diagnosis. Histologically, compatible although no quantificate mast cells, but a mutation of c-kit was found. It is important to consider this disease in the differential diagnosis of pruritic skin disorders since an appropriate treatment with an improvement in quality of life also must be aware of the risk of anafylaxis and its potential triggers.