title: Systemic mastocytosis - a diagnostic challenge.
abstract: Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. Its molecular pathogenesis is incompletely understood. The clinical features of mastocytosis result from both chronic and episodic mast cell mediator release, signs and symptoms arising from diffuse or focal tissue infiltration, and, occasionally, the presence of an associated non-mast cell clonal hematologic disease. The histopathologic analysis is essential for definitive diagnosis but there is no curative treatment. The authors report a clinical case of a 72-year-old woman with no history of allergies, with bicytopenia, weight loss, and diffuse axial osteolytic lesions. This is a rare clinical case of aggressive systemic mastocytosis for which palliative treatment can improve survival and quality of life. A brief review of the literature about this pathology is also included.
authors.affiliation: Hospital Santo António dos Capuchos, Lisbon, Portugal; Centro Hospitalar de Lisboa Central, Lisbon, Portugal. Electronic address: ana.llado@sapo.pt.
authors.forename: Ana Cristina Amorim Oliveira Gaia
authors.initials: AC
authors.lastname: Lladó
authors.affiliation: Hospital Santo António dos Capuchos, Lisbon, Portugal; Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
authors.forename: Claudia Elena
authors.initials: CE
authors.lastname: Mihon
authors.affiliation: Hospital Santo António dos Capuchos, Lisbon, Portugal; Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
authors.forename: Madalena
authors.initials: M
authors.lastname: Silva
authors.affiliation: Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
authors.forename: Antonio
authors.initials: A
authors.lastname: Galzerano
keywords: Allergy and immunology; Biopsy; Bone marrow cells