CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

CHI775LDHOOD_MASTOCYTOSI775S_NEW_DEVELOPMENTS_IN_DI775AGNOSI775S_AND_TREATMENTKAPAK

TYPES OF CHILDHOOD (CUTANEOUS) MASTOCYTOSIS

Çağla Karavaizoğlu

Başakşehir Çam and Sakura City Hospital, Department of Pediatric Immunology and Allergy, İstanbul, Türkiye

Karavaizoğlu Ç. Types of Childhood (Cutaneous) Mastocytosis. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.53-61.

ABSTRACT

Mastocytosis is a hematological disorder characterized by the abnormal proliferation of mast cells in various tissues of the body. Approximately 65% of mastocytosis diagnoses are made in childhood and the high proportion of affected children (>90%) present with cutaneous mastocytosis (CM). Skin lesions in pediatric mastocytosis are heterogeneous. About one-quarter of patients exhibit skin findings at birth, and symptoms often regress during adolescence. Cases of CM don’t meet diagnostic criteria of systemic mastocytosis and show no involvement of organs beyond the dermis. Patients with cutaneous mastocytosis are frequently affected by symptoms mediated by mast cell mediators, which are often triggered by trauma to dermal lesions. In the latest classification, CM is divided into three subgroups: maculopapular CM (MPCM), diffuse CM (DCM), and cutaneous mastocytoma. This chapter discusses the current classification of mastocytosis and then provides an overview of cutaneous mastocytosis types in detail.

Keywords: Mastocytosis; Children; Classification; Cutaneous mastocytosis

Referanslar

  1. Hartmann K, Metcalfe DD. Pediatric Mastocytosis: Hematol Oncol Clin North Am. 2000;14(3):625-640. [Crossref]  [PubMed]
  2. Lange M, Hartmann K, Carter MC, Siebenhaar F, Alvarez-Twose I, Torrado I, et al. Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021. Int J Mol Sci. 2021;22(5):2586. [Crossref]  [PubMed]  [PMC]
  3. Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms Leukemia 2022;36(7):1703-1719. [Crossref]  [PubMed]  [PMC]
  4. Valent P, Sotlar K, Horny HP, Arock M, Akin C. World Health Organization Classification and Diagnosis of Mastocytosis: Immunol Allergy Clin North Am. 2023;43(4);627-649. [Crossref]  [PubMed]
  5. 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]
  6. Matito A, Azaña JM, Torrelo A, Alvarez-Twose I. Cutaneous Mastocytosis in Adults and Children: New Classification and Prognostic Factors: Immunol Allergy Clin North Am. 2018;38(3):351-363. [Crossref]  [PubMed]
  7. Valent P, Escribano L, Broesby-Olsen S, Hartmann K, Grattan C, Brockow K, et al. Proposed Diagnostic Algorithm for Patients with Suspected Mastocytosis: A Proposal of the European Competence Network on Mastocytosis: Allergy 2014;69(10):1267-1274. [Crossref]  [PubMed]
  8. Wassmer H, Hartmann K. Mastozytose bei Kindern: Die Dermatologie 2023; 74(5): 323-329. [Crossref]  [PubMed]  [PMC]
  9. Kettelhut BV, Metcalfe DD. Pediatric mastocytosis: J Invest Dermatol. 1991;96(3 Suppl):15S-65S. [Crossref]  [PubMed]
  10. Belhocine W, Ibrahim Z, Grandné V, et al. Total serum tryptase levels are higher in young infants: Pediatr Allergy Immunol. 2011;22(6):600-607. [Crossref]  [PubMed]
  11. Brockow K, Akin C, Huber M, Metcalfe DD. IL-6 levels predict disease variant and extent of organ involvement in patients with mastocytosis: Clin Immunol. 2005;115(2):216-222 [Crossref]  [PubMed]
  12. 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(6):1673-1679.e3. [Crossref]  [PubMed]  [PMC]
  13. Brockow K. Epidemiology, Prognosis, and Risk Factors in Mastocytosis: Immunol Allergy Clin North Am. 2014;34(2):283-95. [Crossref]  [PubMed]
  14. Valent P, Akin C, Hartmann K, Alvarez-Twose I, Brockow K, Hermine O, et al. Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal Hemasphere 2021; 5(11): e 646. [Crossref]  [PubMed]  [PMC]
  15. Wiechers T, Rabenhorst A, Schick T, Preussner LM, Förster A, Valent P, et al. Large Maculopapular Cutaneous Lesions Are Associated with Favorable Outcome in Childhood-Onset Mastocytosis: J Allergy Clin Immunol. 2015;136(6):1581-1590.e3. [Crossref]  [PubMed]
  16. Azaña JM, Torrelo A, Mediero IG, Zambrano A. Urticaria Pigmentosa A Review of 67 Pediatric Cases: Pediatr. Dermatol 1994;11(2):102-106. [Crossref]  [PubMed]
  17. Caplan RM. The Natural Course of Urticaria Pigmentosa: Arch Dermatol. 1963; 87(2):146. [Crossref]  [PubMed]
  18. Meni C, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Jais JP, Hadj-Rabia S, Bruneau J, et al. Pediatric Mastocytosis; Long-Term Follow-Up of 53 Patients with Whole Sequencing of KIT: Br J Dermatol. 2018;179(4);925-932. [Crossref]  [PubMed]
  19. Castells M, Metcalfe DD, Escribano L. Diagnosis and Treatment of Cutaneous Mastocytosis in Children: Am J Clin Dermatol. 2011;12(4):259-270. [Crossref]  [PubMed]  [PMC]
  20. Van Doormaal JJ, Arends S, Brunekreeft KL, van der Wal,VB, Sietsma J, van Voorst Vader PC, et al. Prevalence of Indolent Systemic Mastocytosis in a Dutch Region. J Allergy Clin Immunol. 2013;131(5):1429-1431.e1. [Crossref]  [PubMed]
  21. Aberer E, Sperr WR, Bretterklieber A, Avian A, Hadzijusufovic E, Kluin-Nelemans HC et al. Clinical Impact of Skin Lesions in Mastocytosis: A Multicenter Study of the European Competence Network on Mastocytosis. J Invest Dermatol. 2021;141(7):1719-1727. [Crossref]  [PubMed]
  22. Brockow K, Akin C, Huber M, Metcalfe DD. Assessment of the Extent of Cutaneous Involvement in Children and Adults with Mastocytosis: Relationship to Symptomatology, Tryptase Levels and Bone Marrow Pathology: J Am Acad Dermatol. 2003;48(4):508-516. [Crossref]  [PubMed]
  23. Leung AKC, Lam JM, Leong KF. Childhood Solitary Cutaneous Mastocytoma; Clinical Manifestations, Diagnosis, Evaluation and Management: Curr Pediatr Rev. 2019;15(1):42-6. [Crossref]  [PubMed]  [PMC]
  24. Méni C, Bruneau J, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Damaj G, Hadj-Rabia S, et al. Pediatric Mastocytosis A Systematic Review of 1747 Cases: Br J Dermatol.2015;172(3);642-651. [Crossref]  [PubMed]
  25. Wolff K, Komar M, Petzelbauer P. Clinical and Histopathological Aspects of Cutaneous Mastocytosis: Leuk Res. 2001;25(7):519-528. [Crossref]  [PubMed]
  26. Özdemir Ö. Management of Cutaneous Mastocytosis during Childhood; Update from the Literature: Hitit Med J 2024;6(1):85-91. [Crossref]
  27. Alvarez-Twose I, Vañó-Galván S, Sánchez-Muñoz L, Morgado JM, Matito A, Torrelo A, et al. Increased Serum Baseline Tryptase Levels and Extensive Skin Involvement ArePredictors for the Severity of Mast Cell Activation Episodes in Children with Mastocytosis: Allergy 201;,67(6):813-821. [Crossref]  [PubMed]  [PMC]
  28. Rydz A, Lange M, Ługowska-Umer H, Sikorska M, Nowicki R.J, Morales-Cabeza C, et al. Diffuse Cutaneous Mastocytosis A Current Understanding of a Rare Disease: Int J Mol Sci. 2024;25(3):1401. [Crossref]  [PubMed]  [PMC]
  29. Heide R, Zuidema E, Beishuizen A, Den Hollander JC, Van Gysel D, Seyger MMB, et al. Clinical Aspects of Diffuse Cutaneous Mastocytosis in Children: Two Variants: Dermatology 2009;219(4):30915. [Crossref]  [PubMed]
  30. Lange M, Niedoszytko M, Nedoszytko B, Lata J, Trzeciak M, Biernat W. Diffuse Cutaneous Mastocytosis: Analysis of 10 Cases and a Brief Review of the Literature: J Eur Acad Dermatol Venereol. 2012;26(12):1565-1571. [Crossref]  [PubMed]
  31. Kleewein K, Lang R, Diem A, Vogel T, Pohla-Gubo G, Bauer JW, et al. Diffuse Cutaneous Mastocytosis Masquerading as Epidermolysis Bullosa: Pediatr Dermatol. 2011;28(6):720-725. [Crossref]  [PubMed]
  32. Hosking A, Makdisi J, Ortenzio F, de Feraudy S, Smith J, Linden K. Diffuse Cutaneous Mastocytosis: Case Report and Literature Review Pediatr Dermatol. 2018;35(6): [Crossref]  [PubMed]
  33. Brockow K, Plata-Nazar K, Lange M, Nedoszytko B, Niedoszytko M, Valent P. Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis: Int J Mol Sci. 2021;22(5):2684. [Crossref]  [PubMed]  [PMC]
  34. Chan IJ, Tharp MD. Comparison of Lesional Skin c-KIT Mutations with Clinical Phenotype in Patients with Mastocytosis Clin Exp Dermatol. 2018;43(4):416-422. [Crossref]  [PubMed]
  35. Wang HJ, Lin ZM, Zhang J Yin JH, Yang Y. A New Germline Mutation in KIT Associated with Diffuse Cutaneous Mastocytosis in a Chinese Family: Clin Exp Dermatol. 2014;39(2):146-149. [Crossref]  [PubMed]
  36. 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]
  37. Jenkinson HA, Lundgren AD, Carter MC, Diaz LZ, Levy ML. Management of a Neonate with Diffuse Cutaneous Mastocytosis: Case Report and Literature Review: Pediatr Dermatol. 2019;36(4):486-489. [Crossref]  [PubMed]
  38. Huang A, Fiadorchanka N, Brar K, Balderacchi JL, Glick SA. In Utero Presentation of Aggressive Systemic Mastocytosis in a Neonate: Br J Dermatol. 2017;177(5):1439-1441. [Crossref]  [PubMed]
  39. Yang Y, Létard S, Borge L, Chaix A, Hanssens K, Lopez S, et al. Pediatric Mastocytosis-Associated KIT Extracellular Domain Mutations Exhibit Different Functional and Signaling Properties Compared with KIT-Phosphotransferase Domain Mutations: Blood. 2010;116(7):1114-1123. [Crossref]  [PubMed]