Cases of Childhood Mastocytosis: A Single Center Experience

Abstract

Objective: Cutaneous mastocytosis, primarily affecting children, is confined to the skin and generally carries a good prognosis. In our study, we aimed to evaluate the clinical findings, laboratory values and treatment-related data of 10 patients who were followed up with a diagnosis of mastocytosis in our clinic between 2014 and 2022. Methods: Age, gender, family history, clinical findings, type of lesions, laboratory values and treatment-related data of the patients were analyzed within the scope of the study. Skin biopsy was taken from clinically suspected patients and the diagnosis was made with histopathologic confirmation. Histopathologic diagnosis was made by demonstration of mast cells showing metachromasia with toluidine blue in full-thickness skin biopsy. Results: The median age at presentation was 10.0 months (min-max: 1.0-117.0). While rash and pruritus were the most common complaints seen in all patients; erythema was seen in 9 (90%) patients. The most common rash type was maculopapular. One (10.0%) patient had nodules and mastocytoma. When the laboratory findings of the patients were evaluated, no patient had thrombocytopenia or leukopenia. One patient had anemia. The median value of total IgE values was 65.0 IU/ml (8.0-1719.0). Conclusion: In our study, all patients had symptoms of rash and pruritus. The most common lesion type in our study was maculopapular rash (UP type) seen in 4 patients (40%). Nodules and mastocytoma (NM type) were seen in 1 patient (10%). In our study covering an eight-year period, all of our patients had cutaneous mastocytosis and none of them had systemic involvement.

Keywords

• Mastocytosis
• rash
• urticaria pigmentosa

References

1. 1. Valent P. Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology. Am J Cancer Res. 2013; 3(2):159-72.
2. 2. Akin C, Valent P. Diagnostic criteria and classification of mastocytosis in 2014. Immunol Allergy Clin North Am. 2014; 34:207-18.
3. 3. Horny HP, Akin C, Metcalfe DD, et al. Mastocytosis (mast cell disease). World Health Organization (WHO). Classification of tumors: pathology and genetics. In: Tumours of haematopoietic and lymphoid tissues. Swerdlow SH, Campo E, Harris NL (eds). IARC Press, Lyon 2008;54-63.
4. 4. Sandru F, Petca RC, Costescu M, et al. Cutaneous Mastocytosis in Childhood-Update from the Literature. J Clin Med. 2021; 10(7):1474.
5. 5. Macri A, Cook C. Urticaria Pigmentosa. In: StatPearls. Treasure Island (FL): StatPearls Publishing; November 13, 2023.
6. 6. Nemat K, Abraham S. Cutaneous mastocytosis in childhood. Allergol Select. 2022; 6:1-10.
7. 7. Giona F. Pediatric Mastocytosis: An Update. Mediterr J Hematol Infect Dis. 2021; 13(1):e2021069.
8. 8. Azaña JM, Torrelo A, Matito A. Update on Mastocytosis (Part 1): Pathophysiology, clinical features, and diagnosis. Actas Dermosifiliogr. 2016; 107(1):5-14.

9. 9. Anstey A, Lowe DG, Kirby JD, Horton MA. Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study. Br J Dermatol. 1991;125(6):583-87.
10. 10. Özdemir PDÖ. Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış. Pediatri. Mart 2018; 10(2):11-17.
11. 11. Kettelhut BV, Parker RI, Travis WD, Metcalfe DD. Hematopathology of the bone marrow in pediatric cutaneous mastocytosis. A study of 17 patients. Am J Clin Pathol. 1989; 91(5):558-562.
12. 12. Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy. 1994;73(3):197-207.
13. 13. Hartmann K, Escribano L, Grattan C, Brockow K, Carter M, 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 and Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016; 137:35-45.
14. 14. Metcalfe DD. Mast cells and mastocytosis. Blood. 2008; 112(4):946-56.
15. 15. Sotlar K, Colak S, Bache A, et al. Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). J Pathol. 2010; 220(5):586-95.
16. 16. Méni C, Bruneau J, Georgin-Lavialle S, et al. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol. 2015; 172(3):642-51.
17. 17. Tüysüz G, Özdemir N, Apak H, Kutlubay Z, Demirkesen C, Celkan T. Childhood mastocytosis: results of a single center. Turk Pediatri Ars. 2015; 50(2):108-13.
18. 18. Lange M, Niedoszytko M, Renke J, et al. Clinical aspects of paediatric mastocytosis: a review of 101 cases. J Eur Acad Dermatol Venereol. 2013; 27: 97-102.
19. 19. Özdemir Ö, Savaşan S. Cutaneous Mastocytosis in Childhood: An Update from the Literature. J Clin Pract Res. 2023; 45(4):311-20.
20. 20. Frieri M, Quershi M. Pediatric Mastocytosis: A Review of the Literature. Pediatr Allergy Immunol Pulmonol. 2013; 26(4):175-80.
21. 21. Hannaford R, Rogers M. Presentation of cutaneous mastocytosis in 173 children. Australas J Dermatol. 2001; 42(1):15-21.
22. 22. Alvarez-Twose I, Vañó-Galván S, Sánchez-Muñoz L, 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):813-21.
23. 23. Müller U, Helbling A, Hunziker T, et al. Mastocytosis and atopy: a study of 33 patients with urticaria pigmentosa. Allergy. 1990; 45(8):597-603.