title: [Mastocytosis].
abstract: Mastocytosis is a heterogeneous disease with an increased number and activation of mast cells. Subtypes range from benign to rare aggressive forms, and the disease may affect people of all ages. The pathogenesis involves mutations in the KIT gene in both children and adult patients. Estimated prevalence is one per 10,000, but the disease is very likely underdiagnosed. The diagnosis may be challenging and patients may present to several medical specialties. This article presents an overview of clinical signs and symptoms as well as a diagnostic algorithm and treatment options of mastocytosis.
authors.affiliation: sigurd.broesby-olsen@rsyd.dk.
authors.forename: Sigurd
authors.initials: S
authors.lastname: Broesby-Olsen
authors.forename: Thomas Kielsgaard
authors.initials: TK
authors.lastname: Kristensen
authors.forename: Lone
authors.initials: L
authors.lastname: Agertoft
authors.forename: Michael Boe
authors.initials: MB
authors.lastname: Møller
authors.forename: Anne Pernille
authors.initials: AP
authors.lastname: Hermann
authors.forename: Trine
authors.initials: T
authors.lastname: Torfing
authors.forename: Troels
authors.initials: T
authors.lastname: Havelund
authors.forename: Charlotte G
authors.initials: CG
authors.lastname: Mørtz
authors.forename: Carsten
authors.initials: C
authors.lastname: Bindslev-Jensen
authors.forename: Hanne
authors.initials: H
authors.lastname: Vestergaard
mesh_terms: D000328:Adult; D000465:Algorithms; D000707:Anaphylaxis / Q000209:etiology; D002648:Child; D006801:Humans; D008415:Mastocytosis / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D010024:Osteoporosis / Q000209:etiology