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Mast Cell Disease:  A Cutaneous Variant With Multisystem Involvement

Carroll F. Burgoon Jr., MD; James H. Graham, MD; David L. McCaffree, MD
Arch Dermatol. 1968;98(6):590-605. doi:10.1001/archderm.1968.01610180034004.
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Three patients are described with mast cell disease characterized by blisters superimposed on widespread skin involvement. The skin changes are present in the newborn and are invariably associated with involvement of the internal organs. The skin lesions regress slowly with age, but the visceral infiltration of mast cells may progress slowly, resembling a type of reticulosis. Skin changes may be the only expression of the disease so that complete medical evaluation is desirable.

The genetic implications of this type of disease in father and daughter are discussed.

Our three patients, and the five reported previously in the literature indicate a strong interrelationship between this type of skin involvement and mast cell infiltration of other systems. Prognosis in this variety of mast cell disease should be guarded, for two of these eight patients have died; five of the remaining six have histopathologic evidence of mast cell infiltration of the reticuloendothelial system; one of these six has gastrointestinal tract involvement and increasing numbers of mast cells in his bone marrow with spillage of mast cells into the peripheral blood.

The structural features of the mast cells were studied in three patients by histology, electron microscopy, and histochemical staining techniques. The mast cell granule contains a sulfated acid mucopolysaccharide.

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