Maella Severino1, Marie-Olivia Chandesris2, Stéphane Barete3, Emilie Tournier4, Béatrix Sans5, Camille Laurent4, Pol André Apoil6, Laurence Lamant4, Claire Mailhol7, Michel Laroche8, Sylvie Fraitag9, Katia Hanssens10, Patrice Dubreuil10, Olivier Hermine2, Carle Paul11, Cristina Bulai Livideanu12. 1. Paul Sabatier University, Toulouse, France; Department of Dermatology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Toulouse University Hospital, Toulouse, France. 2. French Reference Center for Mastocytosis, Paris, France; Department of Hematology, Necker Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France. 3. French Reference Center for Mastocytosis, Paris, France; Unit of Dermatology, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne Universities- Université Pierre et Marie CURIE (UPMC) Paris VI, Paris, France. 4. Paul Sabatier University, Toulouse, France; Department of Pathology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Cancer University Institute of Toulouse Oncopole, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France. 5. Department of Dermatology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France; Toulouse University Hospital, Toulouse, France. 6. Immunology Laboratory, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France. 7. Department of Allergy and Pulmonology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France. 8. Department of Rheumatology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France. 9. French Reference Center for Mastocytosis, Paris, France; Department of Pathology, Necker-Enfants Malades Hospital, AP-HP, Paris, France. 10. Centre de Recherche en Cancérologie de Marseille (CRCM) (Signaling, Hematopoiesis, and Mechanism of Oncogenesis), Inserm, U1068, Institut Paoli-Calmettes, Aix-Marseille University, UM105, Centre national de la recherche scientifique (CNRS), Unité mixte de recherche (UMR) 7258, Marseille, France. 11. Paul Sabatier University, Toulouse, France; Department of Dermatology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France; Toulouse University Hospital, Toulouse, France. 12. Paul Sabatier University, Toulouse, France; Department of Dermatology, Mastocytosis Competence Center of Midi-Pyrénées, Toulouse University Hospital, Toulouse, France; Mastocytosis Competence Center of Midi-Pyrénées, Toulouse, France; Toulouse University Hospital, Toulouse, France. Electronic address: livideanu.c@chu-toulouse.fr.
Abstract
BACKGROUND: Telangiectasia macularis eruptiva perstans (TMEP) has not been fully characterized. OBJECTIVE: We sought to estimate the frequency and clinical characteristics of TMEP in a cohort of adult patients with cutaneous mastocytosis, and to assess the presence of systemic involvement. METHODS: We included all consecutive patients evaluated for cutaneous mastocytosis in 2 centers: the Mastocytosis Competence Center of the Midi-Pyrénées from May 2006 to December 2013, and the French Reference Center for Mastocytosis from January 2008 to September 2013. Skin phenotype, histopathology, presence of KIT mutation in the skin, and assessment of systemic involvement according to World Health Organization (WHO) criteria were prospectively investigated. RESULTS: Of 243 patients with cutaneous mastocytosis, 34 (14%) were given a diagnosis of TMEP. The diagnosis of systemic mastocytosis was established in 16 patients (47%) with TMEP. Three patients (9%) had aggressive systemic mastocytosis (C-findings according to WHO). In all, 32 patients (94%) exhibited at least 1 mast cell activation-related symptom. LIMITATIONS: Patient recruitment was undertaken at 2 referral centers with expertise in the diagnosis and treatment of mastocytosis so that the clinical findings and incidence of systemic involvement may be overestimated in comparison with the overall population of patients with TMEP. CONCLUSION: TMEP accounts for about 14% of patients with cutaneous mastocytosis. The disease manifests as mast cell activation symptoms in almost all patients and can be associated with systemic involvement in about 50% of cases.
BACKGROUND:Telangiectasia macularis eruptiva perstans (TMEP) has not been fully characterized. OBJECTIVE: We sought to estimate the frequency and clinical characteristics of TMEP in a cohort of adult patients with cutaneous mastocytosis, and to assess the presence of systemic involvement. METHODS: We included all consecutive patients evaluated for cutaneous mastocytosis in 2 centers: the Mastocytosis Competence Center of the Midi-Pyrénées from May 2006 to December 2013, and the French Reference Center for Mastocytosis from January 2008 to September 2013. Skin phenotype, histopathology, presence of KIT mutation in the skin, and assessment of systemic involvement according to World Health Organization (WHO) criteria were prospectively investigated. RESULTS: Of 243 patients with cutaneous mastocytosis, 34 (14%) were given a diagnosis of TMEP. The diagnosis of systemic mastocytosis was established in 16 patients (47%) with TMEP. Three patients (9%) had aggressive systemic mastocytosis (C-findings according to WHO). In all, 32 patients (94%) exhibited at least 1 mast cell activation-related symptom. LIMITATIONS: Patient recruitment was undertaken at 2 referral centers with expertise in the diagnosis and treatment of mastocytosis so that the clinical findings and incidence of systemic involvement may be overestimated in comparison with the overall population of patients with TMEP. CONCLUSION: TMEP accounts for about 14% of patients with cutaneous mastocytosis. The disease manifests as mast cell activation symptoms in almost all patients and can be associated with systemic involvement in about 50% of cases.