CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

CHI775LDHOOD_MASTOCYTOSI775S_NEW_DEVELOPMENTS_IN_DI775AGNOSI775S_AND_TREATMENTKAPAK

HISTORY OF CHILDHOOD MASTOCYTOSIS AND URTICARIA PIGMENTOSA

Nalan Yıldız

Karadeniz Technical University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Trabzon, Türkiye

Yıldız N. History of Childhood Mastocytosis and Urticaria Pigmentosa. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.13-20.

ABSTRACT

Mastocytosis is characterized by the accumulation of mast cells in the skin, bone marrow and/or inter- nal organs such as the liver and spleen. It was first reported in 1869 by Nettleship and Tay as an “un- usual form of urticaria” in a 2-year-old child. Subsequently, these lesions were referred to as urticaria pigmentosa (UP) by Sangster, and in 1936, Sezary and Chauvillon used the term “mastocytosis.” For many years, it was believed that mastocytosis only presented with skin involvement, but in 1949, Ellis documented mast cell infiltrates in the skin, liver, spleen, lymph nodes, and bone marrow in an autopsy report of a 1-year-old child. Following this, mastocytosis began to be evaluated in two main catego- ries: cutaneous and systemic. Genetically, the etiology is known to be caused by activating mutations in the c-KIT gene, which encodes the receptor for stem cell factor, crucial for mast cell development and proliferation. While less common in children, the c-KIT D816V mutation can be detected in 80% of adult patients. The most commonly observed form in children is cutaneous mastocytosis , which is limited to skin involvement. Cutaneous mastocytosis includes three forms: maculopapular cutaneous mastocytosis, historically known as UP, diffuse cutaneous mastocytosis, and cutaneous mastocytoma. Children with mastocytosis often suffer from symptoms associated with mast cell mediators, the most common being pruritus, typically triggered by scratching or rubbing the lesions. Treatment primarily involves avoidance of triggers, with the use of H1 and H2 histamine receptor blockers recommended in severe symptoms. Patients are also advised to carry epinephrine autoinjectors for emergencies such as anaphylaxis.

Keywords: Mastocytosis; Child; Urticaria pigmentosa

Referanslar

  1. 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 Oct 13;5(11):e646. [Crossref]  [PubMed]  [PMC]
  2. Valent P, Sotlar K, Horny HP, Arock M, Akin C. World Health Organization Classification and Diagnosis of Mastocytosis: Update 2023 and Future Perspectives. Immunol Allergy Clin North Am. 2023 Nov;43(4):627-649. Epub 2023 Jul 18. [Crossref]  [PubMed]
  3. Nettleship EJBMJ. Rare form of urticaria. 1869:323-30. [Link]
  4. Ehrlich PJAAP. Beitrage zur Kenntnis der granulierten. Bindegewebszellen und der eosinophilen Leukozyten. 1879;3:166-9. [Link]
  5. Metcalfe DD. Mast cells and mastocytosis. Blood. 2008 Aug 15;112(4):946-56. [Crossref]  [PubMed]  [PMC]
  6. Sangster A. An anomalous mottled rash, accompanied by pruritus factitious urticaria and pigmentation, 'urticaria pigmentosa (?)'. Trans Clin Soc Lond. 1878;11:161-3.
  7. PG U. Beitrage zur anatomic und pathogenese der urticaria simplex und pigmentosa. Msehr prakt Dermat, Dermat Studien. 1887;3:1. [Link]
  8. Mutter Rd, Tannenbaum M, Ultmann JE. Systemic mast cell disease. Ann Intern Med. 1963 Dec;59:887-906. [Crossref]  [PubMed]
  9. ELLIS JM. Urticaria pigmentosa; a report of a case with autopsy. Arch Pathol (Chic). 1949 Nov;48(5):426-35. [Link]
  10. Valent P, Hartmann K, Hoermann G, Reiter A, Alvarez-Twose I, Brockow K, et al. Harmonization of Diagnostic Criteria in Mastocytosis for Use in Clinical Practice: WHO vs ICC vs AIM/ECNM. J Allergy Clin Immunol Pract. 2024 Dec;12(12):3250-3260.e5. Epub 2024 Aug 30. [Crossref]  [PubMed]
  11. DEGOS R. Urticaria pigmentaria y otros tipos de mastocitosis; ensayo de clasificacion de las mastocitosis cutaneas [Urticaria pigmentosa and other types of mastocytosis; attempted classification of cutaneous mastocytoses]. Actas Dermosifiliogr. 1955 Jun;46(9):759-85. Spanish. [PubMed]
  12. Metcalfe DD. Classification and diagnosis of mastocytosis: current status. J Invest Dermatol. 1991 Mar;96(3):2S4S.doi:10.1111/1523-1747.ep12468882.PMID:2002248. [Crossref]  [PubMed]
  13. 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 Jul;25(7):603-25. [Crossref]  [PubMed]
  14. 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 Jul;36(7):1703-1719. Epub 2022 Jun 22. [PubMed]
  15. 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 ClinInvest.2007Jun;37(6):435-53.doi:10.1111/j.1365-2362.2007.01807. [Crossref]  [PubMed]
  16. Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157(3):215-25. Epub 2011 Oct 27. [Crossref]  [PubMed]  [PMC]
  17. Akin C, Valent P. Diagnostic criteria and classification of mastocytosis in 2014. Immunol Allergy Clin North Am. 2014May;34(2):207-18.doi:10.1016/j.iac.2014.02.003. [Link] https://pubmed.ncbi.nlm.nih.gov/24745670 [Crossref]  [PubMed]
  18. Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, et al. Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. Cancer Res. 2017 Mar 15;77(6):1261-1270. Epub 2017 Mar 2. [Crossref]  [PubMed]  [PMC]
  19. 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 Mar 4;22(5):2586. [Crossref]  [PubMed]  [PMC]
  20. 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 Dec;136(6):1673-1679.e3. [Crossref]  [PubMed]  [PMC]
  21. Fried AJ, Akin C. Primary mast cell disorders in children. Curr Allergy Asthma Rep. 2013 Dec;13(6):693-701. [Crossref]  [PubMed]
  22. Hartmann K, Henz BM. Mastocytosis: recent advances in defining the disease. Br J Dermatol. 2001 Apr;144(4):682-95. [Crossref]  [PubMed]
  23. Ługowska-Umer H, Czarny J, Rydz A, Nowicki RJ, Lange M. Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis. Diagnostics (Basel). 2023 Dec 1;13(23):3583. [Crossref]  [PubMed]  [PMC]
  24. Klaiber N, Kumar S, Irani AM. Mastocytosis in Children. Curr Allergy Asthma Rep. 2017 Oct 7;17(11):80. [Crossref]  [PubMed]
  25. Gentek R, Ghigo C, Hoeffel G, Bulle MJ, Msallam R, Gautier G, et al. Hemogenic Endothelial Fate Mapping Reveals Dual Developmental Origin of Mast Cells. Immunity. 2018 Jun 19;48(6):1160-1171.e5.doi: 10.1016/j.immuni.2018.04.025.Epub2018May29.PMID:29858009. [Crossref]  [PubMed]
  26. Costa DL, Moura HH, Rodrigues R, Pineiro-Maceira J, Ramos-E-Silva M. Telangiectasia macularis eruptiva perstans: a rare form of adult mastocytosis. J Clin Aesthet Dermatol. 2011 Oct;4(10):52-4. [PubMed]
  27. Wilmas K, Wohlmuth-Wieser I, Duvic M. Telangiectasia macularis eruptiva perstans: an old terminology, still frequently used. Dermatol Online J. 2017 Aug 15;23(8):13030/qt6zx243zm. [Crossref]  [PubMed]
  28. 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 Jan;137(1):35-45. Epub 2015 Oct 21. [Crossref]  [PubMed]
  29. Méni C, Bruneau J, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Damaj G, Hadj-Rabia S, et al. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol. 2015 Mar;172(3):642-51. Epub 2015 Feb 8. [Crossref]  [PubMed]
  30. Polivka L, Rossignol J, Neuraz A, Condé D, Agopian J, Méni C, Garcelon N, Dubreuil P, Maouche-Chrétien L, Hadj-Rabia S, Hermine O, Bodemer C. Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up. J Allergy Clin Immunol Pract. 2021 Apr;9(4):1695-1704.e5. Epub 2020 Dec 15. [Crossref]  [PubMed]
  31. Durmaz AM, Özdemir Ö. Clinical spectrum of patients diagnosed with childhood mastocytosis: a retrospective single center experience. Eur Ann Allergy Clin Immunol. 2024 24. Jun Epub ahead of print. [Crossref]  [PubMed]
  32. Özdemir Ö. Management of Cutaneous Mastocytosis during Childhood: Update from the Literature. Hitit Medical Journal. 2024;6(1):85-91. [Crossref]
  33. Swarnkar B, Sarkar R. Childhood Cutaneous Mastocytosis: Revisited. Indian J Dermatol. 2023 Jan-Feb;68(1):121. [Crossref]  [PubMed]  [PMC]
  34. Giona F. Pediatric Mastocytosis: An Update. Mediterr J Hematol Infect Dis. 2021 Nov 1;13(1):e2021069. [Crossref]  [PubMed]  [PMC]
  35. Leguit RJ, Wang SA, George TI, Tzankov A, Orazi A. The international consensus classification of mastocytosis and related entities. Virchows Arch. 2023 Jan;482(1):99-112. Epub 2022 Oct 10. [Crossref]  [PubMed]
  36. 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 Aug;38(3):351-363. Epub 2018 May 17. [Crossref]  [PubMed]
  37. 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 Dec;136(6):1581-1590.e3. Epub 2015 Jul 4. [Crossref]  [PubMed]
  38. Bodemer C, Hermine O, Palmérini F, Yang Y, Grandpeix-Guyodo C, Leventhal PS, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol. 2010 Mar;130(3):804-15. Epub 2009 Oct 29. [Crossref]  [PubMed]
  39. Kitamura Y, Shimada M, Hatanaka K, Miyano Y. Development of mast cells from grafted bone marrow cells in irradiated mice. Nature. 1977 Aug 4;268(5619):442-3. [Crossref]  [PubMed]
  40. Kirshenbaum AS, Kessler SW, Goff JP, Metcalfe DD. Demonstration of the origin of human mast cells from CD34+ bone marrow progenitor cells. J Immunol. 1991 Mar 1;146(5):1410-5. [Crossref]  [PubMed]
  41. Zsebo KM, Wypych J, McNiece IK, Lu HS, Smith KA, Karkare SB, et al. Identification, purification, and biological characterization of hematopoietic stem cell factor from buffalo rat liver--conditioned medium. Cell. 1990 Oct 5;63(1):195-201. [Crossref]  [PubMed]
  42. Kirshenbaum AS, Goff JP, Kessler SW, Mican JM, Zsebo KM, Metcalfe DD. Effect of IL-3 and stem cell factor on the appearance of human basophils and mast cells from CD34+ pluripotent progenitor cells. J Immunol. 1992 Feb 1;148(3):772-7. [Crossref]  [PubMed]
  43. Valent P, Spanblöchl E, Sperr WR, Sillaber C, Zsebo KM, Agis H, et al. Induction of differentiation of human mast cells from bone marrow and peripheral blood mononuclear cells by recombinant human stem cell factor/kit-ligand in long-term culture. Blood. 1992 Nov 1;80(9):2237-45. [Crossref]  [PubMed]
  44. Kirshenbaum AS, Goff JP, Semere T, Foster B, Scott LM, Metcalfe DD. Demonstration that human mast cells arise from a progenitor cell population that is CD34(+), c-kit(+), and expresses aminopeptidase N (CD13). Blood. 1999 Oct 1;94(7):2333-42. [Crossref]  [PubMed]
  45. Galli SJ, Tsai M, Wershil BK. The c-kit receptor, stem cell factor, and mast cells. What each is teaching us about the others. Am J Pathol. 1993 Apr;142(4):965-74. [PubMed]
  46. Akin C, Metcalfe DD. The biology of Kit in disease and the application of pharmacogenetics. J Allergy Clin Immunol. 2004 Jul;114(1):13-9; quiz 20. [Crossref]  [PubMed]
  47. Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10560-4. [Crossref]  [PubMed]  [PMC]
  48. Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, et al. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. NatGenet.1996Mar;12(3):312-4.doi:10.1038/ng0396-312. [Crossref]  [PubMed]
  49. 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 Apr;47(4):426-429. Epub 2020 Feb 20. [Crossref]  [PubMed]
  50. Tang X, Boxer M, Drummond A, Ogston P, Hodgins M, Burden AD. A germline mutation in KIT in familial diffuse cutaneous mastocytosis. J Med Genet. 2004 Jun;41(6):e88. [Crossref]  [PubMed]  [PMC]