title: [Vulvar oedema revealing systemic mastocytosis].
abstract: BACKGROUND
  Systemic mastocytosis is characterised by abnormal proliferation of mast cells in various organs. We report an original case of systemic mastocytosis revealed by vulvar oedema.
  
  
  METHODS
  A 24-year-old patient was examined in the dermatology department for vulvar oedema appearing during sexual intercourse. She presented vasomotor dysfunction of the lower limbs, urticaria on the trunk on exertion, diarrhoea and bone pains. Laboratory tests showed serum tryptase of 29.7μg and plasma histamine at twice the normal value. Myelogram results showed infiltration by dysmorphic mast cells. Screening for c-kit D816V mutation was positive. Duodenal biopsies revealed mast-cell clusters with aggregation involving over 15 mast cells. CD2 staining was inconclusive and CD25 staining could not be done. Trabecular osteopenia was found, and we thus made a diagnosis of indolent systemic mastocytosis (ISM variant Ia) as per the WHO 2008 criteria. Symptomatic treatment was initiated (antiH1, H2, antileukotrienes) and clinical and laboratory follow-up was instituted.
  
  
  CONCLUSIONS
  The cutaneous signs leading to diagnosis in this patient of systemic mastocytosis involving several organs were seemingly minimal signs associated with mastocyte degranulation. This is the third recorded case of mastocytosis revealed by vulvar oedema and the first case revealing systemic involvement. The two previously reported cases of vulvar oedema revealed cutaneous mastocytosis alone. Mastocytosis, whether systemic or cutaneous, must be included among the differential diagnoses considered in the presence of vulvar oedema.
authors.affiliation: Unité d'allergologie, service de dermatologie, centre de compétences des mastocytoses, CHRU de Besançon, 3, boulevard Fleming, 25030 Besançon cedex, France. Electronic address: elise.deveza@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Deveza
authors.affiliation: Unité d'allergologie, service de dermatologie, centre de compétences des mastocytoses, CHRU de Besançon, 3, boulevard Fleming, 25030 Besançon cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: Unité d'allergologie, service de dermatologie, centre de compétences des mastocytoses, CHRU de Besançon, 3, boulevard Fleming, 25030 Besançon cedex, France.
authors.forename: M
authors.initials: M
authors.lastname: Girardin
authors.affiliation: Service d'anatomopathologie, CHRU de Besançon, 25030 Besançon cedex, France.
authors.forename: S
authors.initials: S
authors.lastname: Valmary-Degano
authors.affiliation: Service d'hématologie, CHRU de Besançon, 25030 Besançon cedex, France.
authors.forename: E
authors.initials: E
authors.lastname: Daguindau
authors.affiliation: Unité d'allergologie, service de dermatologie, centre de compétences des mastocytoses, CHRU de Besançon, 3, boulevard Fleming, 25030 Besançon cedex, France; EA3181, SFR FED 4234 IBCT, université de Franche-Comté, 25030 Besançon cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Aubin
authors.affiliation: Unité d'allergologie, service de dermatologie, centre de compétences des mastocytoses, CHRU de Besançon, 3, boulevard Fleming, 25030 Besançon cedex, France; Inserm U1098, SFR FED 4234 IBCT, université de Franche-Comté, 25030 Besançon cedex, France.
authors.forename: P
authors.initials: P
authors.lastname: Humbert
authors.affiliation: Unité d'allergologie, service de dermatologie, centre de compétences des mastocytoses, CHRU de Besançon, 3, boulevard Fleming, 25030 Besançon cedex, France; Inserm U1098, SFR FED 4234 IBCT, université de Franche-Comté, 25030 Besançon cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Pelletier
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D001847:Bone Diseases / Q000209:etiology; D003967:Diarrhea / Q000209:etiology; D004487:Edema / Q000209:etiology; D005260:Female; D006632:Histamine / Q000097:blood; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D020024:Leukotriene Antagonists / Q000008:administration & dosage; D008407:Mast Cells / Q000473:pathology*; D034721:Mastocytosis, Systemic / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D010146:Pain / Q000209:etiology; D016896:Treatment Outcome; D053802:Tryptases / Q000097:blood*; D014582:Urticaria Pigmentosa / Q000209:etiology; D014845:Vulvar Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*
chemical_list: D015415:Biomarkers; D007166:Immunosuppressive Agents; D020024:Leukotriene Antagonists; D006632:Histamine; D053802:Tryptases
keywords: Mast cells; Mastocytose; Tryptase; Vulvar oedema; Œdème vulvaire