UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Mastocytosis (cutaneous and systemic): Evaluation and diagnosis in children

Authors
Mariana C Castells, MD, PhD
Cem Akin, MD, PhD
Section Editor
Bruce S Bochner, MD
Deputy Editor
Anna M Feldweg, MD

INTRODUCTION

Mastocytosis describes a group of disorders in which there is pathologic accumulation of mast cells in tissues. These diseases can be limited to the skin (cutaneous mastocytosis [CM]) or involve extracutaneous tissues (systemic mastocytosis [SM]).

The evaluation and diagnosis of the different forms of CM and SM in children are reviewed here. The evaluation and diagnosis in adults, the clinical manifestations of mastocytosis, the treatment of mastocytosis, and the biology of mast cells are discussed separately:

(See "Mastocytosis (cutaneous and systemic): Evaluation and diagnosis in adults".)

(See "Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations".)

(See "Treatment and prognosis of cutaneous mastocytosis".)

                                

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Nov 2016. | This topic last updated: Mon Dec 05 00:00:00 GMT+00:00 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
References
Top
  1. Castells M, Metcalfe DD, Escribano L. Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. Am J Clin Dermatol 2011; 12:259.
  2. Carter MC, Clayton ST, Komarow HD, et al. Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis. J Allergy Clin Immunol 2015; 136:1673.
  3. Hartmann K, Escribano L, Grattan C, et al. Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol 2016; 137:35.
  4. Wiechers T, Rabenhorst A, Schick T, et al. Large maculopapular cutaneous lesions are associated with favorable outcome in childhood-onset mastocytosis. J Allergy Clin Immunol 2015; 136:1581.
  5. Heide R, Zuidema E, Beishuizen A, et al. Clinical aspects of diffuse cutaneous mastocytosis in children: two variants. Dermatology 2009; 219:309.
  6. Bankova LG, Walter JE, Iyengar SR, et al. Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. J Allergy Clin Immunol Pract 2013; 1:94.
  7. Castells MC, Bankova L. Reply. J Allergy Clin Immunol Pract 2016; 4:190.
  8. Schwartz LB, Metcalfe DD, Miller JS, et al. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N Engl J Med 1987; 316:1622.
  9. Sheridan RL, Liu V, Anupindi S. Case records of the Massachusetts General Hospital. Case 34-2005. A 10-year-old girl with a bullous skin eruption and acute respiratory failure. N Engl J Med 2005; 353:2057.
  10. Walker T, von Komorowski G, Scheurlen W, et al. Neonatal mastocytosis with pachydermic bullous skin without c-Kit 816 mutation. Dermatology 2006; 212:70.
  11. Murphy M, Walsh D, Drumm B, Watson R. Bullous mastocytosis: a fatal outcome. Pediatr Dermatol 1999; 16:452.
  12. Schwartz LB, Irani AM. Serum tryptase and the laboratory diagnosis of systemic mastocytosis. Hematol Oncol Clin North Am 2000; 14:641.
  13. Schwartz LB, Sakai K, Bradford TR, et al. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest 1995; 96:2702.
  14. Soter NA. Mastocytosis and the skin. Hematol Oncol Clin North Am 2000; 14:537.
  15. Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res 2001; 25:519.
  16. Bodemer C, Hermine O, Palmérini F, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol 2010; 130:804.
  17. Sotlar K, Escribano L, Landt O, et al. One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol 2003; 162:737.
  18. Méni C, Bruneau J, Georgin-Lavialle S, et al. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol 2015; 172:642.
  19. Kristensen T, Vestergaard H, Bindslev-Jensen C, et al. Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. Am J Hematol 2014; 89:493.
  20. Arock M, Sotlar K, Akin C, et al. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia 2015; 29:1223.
  21. In the United States, testing is available through Quest Diagnostics (CPT code 81402) and Mayo Clinic Laboratories (Test code KITB).
  22. Hartmann K, Metcalfe DD. Pediatric mastocytosis. Hematol Oncol Clin North Am 2000; 14:625.
  23. Carter MC, Metcalfe DD, Clark AS, et al. Abnormal bone marrow histopathology in paediatric mastocytosis. Br J Haematol 2015; 168:865.
  24. Akin C, Fumo G, Yavuz AS, et al. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood 2004; 103:3222.
  25. Teodosio C, García-Montero AC, Jara-Acevedo M, et al. Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes. J Allergy Clin Immunol 2010; 125:719.
  26. Álvarez-Twose I, Jara-Acevedo M, Morgado JM, et al. Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis. J Allergy Clin Immunol 2016; 137:168.
  27. Horny HP, Metcalf DD, Bennett JM, et al. Mastocytosis. In: WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues, Swerdlow SH, Campo E, Harris NL, et al (Eds), Lyon IARC Press, Lyon 2008. p.54.
  28. Horny HP, Parwaresch MR, Kaiserling E, et al. Mast cell sarcoma of the larynx. J Clin Pathol 1986; 39:596.
  29. Kojima M, Nakamura S, Itoh H, et al. Mast cell sarcoma with tissue eosinophilia arising in the ascending colon. Mod Pathol 1999; 12:739.
  30. Ryan RJ, Akin C, Castells M, et al. Mast cell sarcoma: a rare and potentially under-recognized diagnostic entity with specific therapeutic implications. Mod Pathol 2013; 26:533.
  31. Weiler CR, Butterfield J. Mast cell sarcoma: clinical management. Immunol Allergy Clin North Am 2014; 34:423.
  32. Doyle LA, Hornick JL. Pathology of extramedullary mastocytosis. Immunol Allergy Clin North Am 2014; 34:323.
  33. Castells MC. Extracutaneous mastocytoma. J Allergy Clin Immunol 2006; 117:1513.
  34. Lange M, Niedoszytko M, Nedoszytko B, et al. Diffuse cutaneous mastocytosis: analysis of 10 cases and a brief review of the literature. J Eur Acad Dermatol Venereol 2012; 26:1565.