CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

CHI775LDHOOD_MASTOCYTOSI775S_NEW_DEVELOPMENTS_IN_DI775AGNOSI775S_AND_TREATMENTKAPAK

DIAGNOSTIC CRITERIA OF CHILDHOOD MASTOCYTOSIS

Lütfi Kılınçkaya

Sakarya University, Faculty of Medicine, Sakarya Training and Research Hospital, Department of Pediatric Immunology and Allergy Diseases, Sakarya, Türkiye

Kılınçkaya L. Diagnostic Criteria of Childhood Mastocytosis. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.65-74.

ABSTRACT

Mastocytosis is a syndrome characterized by the proliferation and accumulation of clonal mast cells in the skin (dermis) and/or in more than one system. Cutaneous mastocytosis is more common in children and systemic mastocytosis is more common in adults. In the presence of brown-red, macular, macu- lopapular lesions on the skin, sometimes plaque-like with a triggering factor, systemic mastocytosis should be kept in mind in the simultaneous presence of symptoms related to different systems such as cutaneous mastocytosis, abdominal pain, diarrhea, palpitations, and dizziness. In the initial evaluation, Darier sign should be checked in the suspicious lesion on the skin during physical examination and or- ganomegaly should be evaluated. Complete blood count, liver function tests, and serum tryptase value can be checked as laboratory tests. It is recommended that skin biopsy be performed if necessary. The diagnostic criteria for both cutaneous and systemic mastocytosis were established based on the criteria determined by the World Health Organization (WHO) working groups. This chapter aims to define the diagnostic criteria for pediatric mastocytosis.

Keywords: Childhood mastocytosis; Diagnostic criteria; Tryptase; Biopsy; c-kit mutation

Referanslar

  1. Özdemir Ö, Savaşan S. Cutaneous Mastocytosis in Childhood. J Clin Pract Res. 2023;45(4):311-20. [Crossref]
  2. Arase N, Wataya-Kaneda M, Murota H, Nakagawa Y, Yamaoka T, Itoi-Ochi S, et al. Genotype and phenotype analysis of patients with pediatric cutaneous mastocytosis, especially wild-type KIT patients. J Dermatol. 2020;47(4):426-429. [Crossref]  [PubMed]
  3. Carter MC, Metcalfe DD, Clark AS, Wayne AS, Maric I. Abnormal bone marrow histopathology in paediatric mastocytosis. Br J Haematol. 2015;168(6):865-873. [Crossref]  [PubMed]  [PMC]
  4. Horny HP. Mastocytosis: an unusual clonal disorder of bone marrow-derived hematopoietic progenitor cells. Am J Clin Pathol. 2009;132(3):438-447. [Crossref]  [PubMed]
  5. Giannetti A, Filice E, Caffarelli C, Ricci G, Pession A. Mast Cell Activation Disorders. Medicina. 2021; 57(2):124. [Crossref]  [PubMed]  [PMC]
  6. Watanabe Y, Morichi S, Takamatsu T, Ito T, Yamanaka G. Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay. Cureus. 2023;15(2):e34536. Published 2023 Feb 2. [Crossref]
  7. Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, 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(1):35-45. [Crossref]  [PubMed]
  8. Valent P, Akin C, Escribano L, Födinger M, Hartmann K, Brockow K, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37(6):435-453. [Crossref]  [PubMed]
  9. Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25(7):603-625. [Crossref]  [PubMed]
  10. Lange M, Flisiak I, Kapińska-Mrowiecka ML, Kaszuba A, Maj J, Rudnicka L, et al. Mastocytosis. Diagnostic and therapeutic recommendations of the Polish Dermatological Society. Dermatology Review/Przegląd Dermatologiczny, 2018;105(3), 358-383. [Link]
  11. Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017;129(11):1420-1427. [Crossref]  [PubMed]  [PMC]
  12. Meni C, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Jais JP, Hadj-Rabia S, Bruneau J, et al. Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study. Br J Dermatol. 2018;179(4):925-932. [Crossref]  [PubMed]
  13. Frieri M, Quershi M. Pediatric Mastocytosis: A Review of the Literature. Pediatr Allergy Immunol Pulmonol. 2013;26(4):175-180. [Crossref]  [PubMed]  [PMC]
  14. Macri A, Cook C. Urticaria Pigmentosa. In: StatPearls. Treasure Island (FL): StatPearls Publishing; November 13, 2023. [PubMed]
  15. Ben-Amitai D, Metzker A, Cohen HA. Pediatric cutaneous mastocytosis: a review of 180 patients. Isr Med Assoc J. 2005;7(5):320-322. [PubMed]
  16. Özdemir Ö. Management of Cutaneous Mastocytosis during Childhood: Update from the Literature. Hitit Medical Journal. 2024;6(1):85-91. [Crossref]
  17. Darier sign in mastocytoma [Ethernet]. The Medical Journal of Australia. 15 March 2021. [Crossref]  [PubMed]
  18. Carter MC, Clayton ST, Komarow HD, Brittain EH, Scott LM, Cantave D, et al. Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis. J Allergy Clin Immunol. 2015;136(6):1673-1679.e3. [Crossref]  [PubMed]  [PMC]
  19. Giona F. Pediatric Mastocytosis: An Update. Mediterr J Hematol Infect Dis. 2021;13(1):e2021069. Published 2021 Nov 1. [Crossref]  [PubMed]  [PMC]
  20. 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(19):2057-2066. [Crossref]  [PubMed]
  21. Heide R, Zuidema E, Beishuizen A, Den Hollander JC, Van Gysel D, Seyger MM, et al. Clinical aspects of diffuse cutaneous mastocytosis in children: two variants. Dermatology. 2009;219(4):309-315. [Crossref]  [PubMed]
  22. Walker T, von Komorowski G, Scheurlen W, Dorn-Beineke A, Back W, Bayerl C. Neonatal mastocytosis with pachydermic bullous skin without c-Kit 816 mutation. Dermatology. 2006;212(1):70-72. [Crossref]  [PubMed]
  23. Murphy M, Walsh D, Drumm B, Watson R. Bullous mastocytosis: a fatal outcome. Pediatr Dermatol. 1999;16(6):452-455. [Crossref]  [PubMed]
  24. Alvarez-Twose, I., Vañó-Galván, S., Sánchez-Muñoz, L., Morgado, J. M., Matito, A., Torrelo, et al. Increased serum baseline tryptase levels and extensive skin involvement are predictors for the severity of mast cell activation episodes in children with mastocytosis. Allergy. 2012;67(6):813-821. [Crossref]  [PubMed]  [PMC]
  25. Seth N, Tuano KT, Buheis M, Chan A, Chinen J. Serum tryptase levels in pediatric mastocytosis and association with systemic symptoms. Ann Allergy Asthma Immunol. 2020;125(2):219-221. [Crossref]  [PubMed]
  26. Schwartz LB, Irani AM. Serum tryptase and the laboratory diagnosis of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14(3):641-657. [Crossref]  [PubMed]
  27. Valent, P., Hoermann, G., Bonadonna, P., Hartmann, K., Sperr, W. R., Broesby-Olsen, S, et al. The Normal Range of Baseline Tryptase Should Be 1 to 15 ng/mL and Covers Healthy Individuals With HαT. J Allergy Clin Immunol Pract. 2023;11(10):3010-3020. [Crossref]  [PubMed]  [PMC]
  28. Sandru F, Petca RC, Costescu M, Dumitrașcu MC, Popa A, Petca A, et al. Cutaneous Mastocytosis in Childhood-Update from the Literature. J Clin Med. 2021;10(7):1474. Published2021 Apr 2. [Crossref]  [PubMed]  [PMC]
  29. Bocca-Tjeertes IFA, van de Ven AAJM, Koppelman GH, Sprikkelman AB, Oude Elberink HJNG. Medical algorithm: Peri-operative management of mastocytosis patients. Allergy. 2021;76(10):3233-3235. [Crossref]  [PubMed]  [PMC]
  30. Soter NA. Mastocytosis and the skin. Hematol Oncol Clin North Am. 2000;14(3):537-vi. [Crossref]  [PubMed]
  31. Bankova LG, Walter JE, Iyengar SR, Lorenzo ME, Hornick JL, Castells MC. Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. J Allergy Clin Immunol Pract. 2013;1(1):94-96. [Crossref]  [PubMed]
  32. Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res. 2001;25(7):519-528. [Crossref]  [PubMed]
  33. Bodemer, C., Hermine, O., Palmérini, F., Yang, Y., Grandpeix-Guyodo, C., Leventhal, , et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol. 2010;130(3):804-815. [Crossref]  [PubMed]
  34. Kristensen T, Vestergaard H, Bindslev-Jensen C, Møller MB, Broesby-Olsen S; Mastocytosis Centre, Odense University Hospital (MastOUH). Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. Am J Hematol. 2014;89(5):493-498. [Crossref]  [PubMed]
  35. Méni C, Bruneau J, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Damaj G, Hadj-Rabia, et al. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol. 2015;172(3):642-651. [Crossref]  [PubMed]
  36. Arock M, Sotlar K, Akin C, Broesby-Olsen S, Hoermann, G, Escribano L, et al. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia. 2015;29(6):1223-1232. [Crossref]  [PubMed]  [PMC]
  37. Czarny J, Żuk M, Zawrocki A, Plata-Nazar K, Biernat W, Niedoszytko M, et al. New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood. Acta Derm Venereol. 2020;100(10):adv00149. Published 2020 May 28. [Crossref]  [PubMed]  [PMC]