Diagnosis of Cutaneous Mastocytosis in an Adult Patient: A Case Report

Abstract

The cutaneous mastocytosis is characterized by infiltration and proliferation of mast cells in the skin with no evidence of extracutaneous involvement. The clinical findings most frequently found are brownish macules or papules slightly elevated, frequently localized in the limbs, chest and abdomen. Mutations in the c-kit receptor (CD117) are frequent and provide the pathophysiology basis of the disease. These mutations allow autophosphorylation of the c-kit receptor and subsequent degranulation of mast cell precipitated with a variety of stimuli, releasing local or systemic cell mediators capable of causing symptoms. Skin lesions occur in both the systemic and the cutaneous form of the disease, though the latter is more frequently seen in children, while most adults with mastocytosis present signs and symptoms of systemic involvement. Although this clinical pattern, we report a rare case of adult-onset cutaneous mastocytosis in a masculine patient of 32 years old. Clinical presentation featured hyperpigmented macules with brownish coloration diffused through the chest and limbs. Skin and bone marrow biopsies and laboratory testing were made and strengthened the diagnosis of cutaneous mastocytosis, a clinical presentation with little similar case reports.