Gastrointestinal abnormalities and involvement in systemic mastocytosis

In 1869, Nettleship and Tay(159) described a 2-year-old child with hyperpigmented, urticarial skin lesions. Their report is credited as being the first description of urticaria pigmentosa. It was not until 1877(54) that mast cells were first described by Ehrlich, who found cells possessing cytoplasmic granules that stained metachromatically with aniline dyes. He called these cells "mastzellen" because they were distended with granules. Subsequently, in 1878, Sangster(191) described a patient with a pigmented, urticarial rash which he called "urticaria pigmentosa." In 1887,(226) Unna demonstrated the presence of mast cells in the skin lesions of affected patients. It was not until 50 years later, in 1933, that Touraine and co-workers(217) suggested that the disease might involve internal organs and 16 years later, in 1949, that Ellis et al(55) established this fact on an autopsy study in a 1-year-old child. In this first description of systemic mastocytosis by Ellis et al(55) the patient had urticaria pigmentosa from birth and developed diarrhea with voluminous, foul-smelling stools. Autopsy revealed hepatomegaly, splenomegaly, and lymphadenopathy, with microscopic infiltration by mast cells of the bone marrow, liver, spleen, lymph node, kidney, and pancreas.(55) Therefore, in both the clinical description and histologically, there was clear evidence for gastrointestinal involvement in the first established case of systemic mastocytosis.(55) In 1936, Sezary(200) proposed the name mastocytosis for this generalized involvement by mast cells.