Clinical features of mastocytosis at pediatric patients

Cover Page


Cite item

Full Text

Abstract

Mastocytosis is relevant to heterogeneous disease group characterized with redundant accumulation and proliferation of mast cells in tissues. The skin form of mastocytosis is mainly occurs in children. The article contains the current data on etiology, pathogenesis, classification, clinical forms, diagnosis, prophylactics and mastocytosis treatment at children.

About the authors

D. V. Proshutinskaya

State Research Center of Dermatovenereologyand Cosmetology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: diana.dika@mail.ru
Russian Federation

O. S. Makoveckaya

State Research Center of Dermatovenereologyand Cosmetology, Ministry of Healthcare of the Russian Federation

Email: noemail@neicon.ru
Russian Federation

References

  1. Akin C., Valent P., Diagnostic criteria and classification of mastocytosis in 2014. Immunol Allergy Clin North Am 2014; 34: 207-218.
  2. Azana J. M. Urticaria pigmentosa: a review of 67 paediatric cases. Ped. Dermatol 1994; (11): 102-106.
  3. Fernandez A. T., Campoamor L. N., Mora L. E. et al. Diagnostico, tratamiento у clasification de la mastocitosis pediatrica. Estudio de 172 casos. Actas. Dermosifiliogr 1998; (89): 461-476.
  4. Kettelhut B. V., Metacalfe D. Pediatric mastocytosis. J Invest Dermatol 1991; 96 (Suppl.): 15-18.
  5. Castells M. Mastocytosis: classification, diagnosis and clinical presentation Allergy. Asthma. 2004; (25): 33-36.
  6. Lanternier F., Cohen-Akenine A., Palmerini F., Feger F., Yang Y., Zermati Y., et al. Phenotypic and genotypic characteristics of mastocytosis according to the age of onset. PLoS One. 2008; (3): 19-26.
  7. Tereshchenko V. N. Generalizovannaya uzlovato-infiltrativnaya forma mastotsitoza. Rossiyskiy zhurnal kozhnykh i venericheskikh bolezney. 2005; (3): 29-31. [Терещенко В. Н. Генерализованная узловато-инфильтративная форма мастоцитоза. Российский журнал кожных и венерических болезней. 2005; (3): 29-31.]
  8. Sagher F., Even-Paz A. Mastosytosis and the mast cell. Chicago; 1967; Fine J. Mastosytosis. Int J Dermatol 1980; 19: 117-123.
  9. Hartmann K., Henz B. M. Mastosytosis: resent advances in defining the disease. Br J Dermatol 2001; 144: 682-695.
  10. Torrelo A., Alvarez-Twose I., Escribano L. Childhood mastocytosis. Curr Opin Pediatr 2012; (24/4): 480-486.
  11. Brockow K., Metcalfe D. D. Mastocytosis, Clinical immunology - principles and practice. Mosby International Ltd, London, Edinburgh, New York 2001; 11: 23-28.
  12. Pardanani A., Kimlinger Т., Reeder T. Bone marrow mast cell immunophenotyping in adults with must cells diseases: a prospective study of 33 patients. Leuk Res 2004; (28): 777-783.
  13. Leonardi S., Vitaliti G., Pratico A. D., La Rosa M. Telangiectasia macularis eruptive perstans (TMEP) in childhood: a case report and literature review. Allergol Immunopathol (Madr). 2012; 40: 321-323.
  14. Fried A. J., Akin C. Primary mast cell disorders in children. Curr Allergy Asthma Rep 2013; (13/6): 693-701.
  15. Dirk Van Gysel et al., Mastocytosis: a comprehensive insight. Giornale italiano di dermatologia e venereologia: organo ufficiale, Societa italiana di dermatologia e sifilografia 2016; (08): 1-3.
  16. Silva I. Mastocytosis: a rare case of anaphylaxis in pediatric age and literature review. Allergo Immunopathol 2008; 36: 154-163.
  17. Proshutinskaya D. V., Makovetskaya O. S. Klinicheskaya kharakteristika kozhnykh form mastotsitoza u detey. XVI Vserossiyskiy syezd dermatovenerologov i kosmetologov. M, 2016; 31-32. [Прошутинская Д. В., Маковецкая О. С. Клиническая характеристика кожных форм мастоцитоза у детей. XVI Всероссийский съезд дерматовенерологов и косметологов. М, 2016; 31-32.]
  18. Shiloh Malawsky Y., Confino Y., Yosipovitz A., Nassan D., Augarten A. Mastocytosis: The paediatric emergency physician’s perspective. Pediatr. Emerg. Care. 2003; (19): 17-23.
  19. Lim K. N, Tefferi A., Lasho T. L. et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009; 113: 27-36.
  20. Fernandez A. T., Campoamor L. N., Mora L. E. et al. Diagnostico, tratamiento у clasification de la mastocitosis pediatrica. Estudio de 172 casos. Actas. Dermosifiliogr 1998; (89): 461-476.
  21. Jordan R., Fritsche Polanz, W. R. Sperr et al. A case of «smouldering» mastocytosis with high mast cell burden, monoclonal myeloid cells, and CKIT mutation Asp816Val. J Leuk. Res 2001; (25): 627-634.
  22. Vigovskaya Ya.I., Serafin N.Ya. Lozinskaya M. R. i dr. Sluchay mastotsitarnoy leykemii. Ukrainskiy zhurnal gematologii i transfuziologii. 2006; (6): 32-36. [Виговская Я. И., Серафин Н. Я., Лозинская М. Р. и др. Случай мастоцитарной лейкемии. Украинский журнал гематологии и трансфузиологии. 2006; (6): 32-36.]
  23. Yarilin A.A. Osnovy immunologii: uchebnik. M: Meditsina. 1999; (1): 608-609. [Ярилин А.А. Основы иммунологии: учебник. М: Медицина, 1999; (1): 608-609.]
  24. Feger F., Ribadeau Dumas A., Leriche L et al. Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts. Int Arch Allergy Immunol 2002; 127: 110-114.
  25. Escribano L. Prognosis in sdult indolent sysctemic mastocytosis: a lonfterm study of the Spanish Network on Mastocytosis in a series of 145 patients. Allergy Clin Immunol 2009; (3): 514-521.
  26. Wolff K. Clinical and pathological aspects of cutaneous mastocytosis. 2001; 25: 603-625.
  27. Kitamura Y., Kasugai T., Arisono N. et al. Development of mast cells and basophils: processes and regulation mechanisms. Am J Med Sci 1993; 306: 185-191.
  28. Welker P., Grabbe J., Gibbs B. et al. Nerve growth factor-beta induces mast-cell marker expression during in vitro culture of human umbilical cord blood cells. Immunology 2000; 99: 418-426.
  29. Hartman K., Henz B. Classification of cutaneous mastocytosis: a modified consensus proposal. Leuk Res 2002; 26: 485-486.
  30. Orfao A., Garsia-Montero A. C., Sanchez L. et al. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol 2007; 138: 12-30.
  31. Furitsu T., Tsujimura T., Tono T., Ikeda H., Kitayama H., Koshimizu Uet al. Identification of mutations in the coding sequence of the protooncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest 1993; 92: 1736-1744.
  32. Longley B. J., Reguera M. J., Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res 2001; 25: 571-576.
  33. Golkar L., Bernhard J. D. Biomedical reference collection: comprehensive seminar for mastocytosis. Lancet 1997; 349 (9062): 1379-1385.
  34. Horny H. P., Sotlar K., Valent P., Hartmann K. Mastocytosis. Dtsch Arztebl Int 2008; 105: 686-692.
  35. Soter N. A. Mastocytosis and the skin. Hematol Oncol Clin North Am 2000; 14: 537-555.
  36. Ma D., Stence A.A., Bossler A.B., Hackman J.R., Bellizzi A.M. Identification of KIT activating mutations in paediatric solitary mastocytoma. Histopathology 2014; (64): 218-25.
  37. Bodemer C., Hermine O., Palmerini F. et al. Pediatric mastocytosis is a clonal disease associated with D816 and other activating c-KIT mutations. J Invest Dermatol 2010; (130): 804-815.
  38. Ustun C., Corless C. L., Savage N. et al. Chemotherapy and dasatinib induce longterm hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V. Leuk Res 2009; (33): 735-741.
  39. Ken Hong L., Tefferi A. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009; (113): 5727-5736.
  40. Worobec A. Treatment of systemic mast cell disorders. Hematol. Oncol. Clin. North Am. 2000; (14): 659-687.
  41. Ben-Amitai D., Metzker A., Cohen H. A. Pediatric cutaneous mastocytosis: a review of 180 patients. Isr Med Assooc J 2005; 7: 320-322.
  42. Carter M. C., Clayton S. T., Komarow H. D., assessment of clinical findings, tryptase levels and bone marrow histopathology in the management of pediatric mastocytosis. J Allergy Clin Immunol 2015; 04: 20-24.
  43. Zakhartseva L. M., Shatrova K. M. Krachok I. A., Dyatel M. V., Kadnikova T. V., Filonenko E. S., Titorenko I. B., Glavinskiy E. A. Sistemnyy mastotsitoz s preimushchestvennym porazheniyem kostnoy i limfaticheskoy sistemy (Obzor literatury i sluchay iz praktiki). Onkologiya. 2015; (17): 236-242. [Захарцева Л. М., Шатрова К. М., Крачок И. А., Дятел М. В., Кадникова Т. В., Филоненко Е. С., Титоренко И. Б., Главинский Е. А. Системный мастоцитоз с преимущественным поражением костной и лимфатической системы (Обзор литературы и случай из практики). Онкология. 2015; (17): 236-242.]
  44. Tefferi A., Vardiman J. W. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-ofcare diagnostic algorithms. Leukemia 2008; 22:14-22.
  45. Hartmann K. et al., Cutaneous manifestation in patients with mastocytosis.: Consensus report of the European Competence Network on Mastocytosis. J Allergy Clin Immynol 2016; 137: 35-45.
  46. Wiechers T., Rabenhorst A., Schick T., Preussner L. M., Forster A., valent P. et al. Large maculopapular cutaneous lesions are associated with favorable outcome in childhood-onset mastocytosis. J Allergy Clin Immunol 2015; 05: 30-34.
  47. Lange M., Nedoszytko B., Gorska A., Zawrocki A. et al. Mastocytosis in children and adults: clinical disease heterogeneity. Arch Med Sci 2012; 8: 533-541.
  48. Teodosio C., and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes. J Allergy Clin Immunol 2010; 125: 719-726.
  49. Chan Ec, Bai Y., Kirshenbaum A. S., Fisher E. R. et al. Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype. J Allergy Clin Immunol 2014; 134: 178-187.
  50. Longley B. J., Tyrrell L., Lu S. Z., Ma Y. S., Langley K., Ding T. G., Duffy T., Jacobs P., Tang L. H., Modlin I.: Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat Genet 1996; 12: 312-314.
  51. Longley B. J., Metcalfe D. D., Tharp M., Wang X., Tyrrell L., Lu S. Z., Heitjan D., Ma Y.: Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 1999; 96: 1609-1614.
  52. Sotlar K., Marafioti T., Griesser H., Theil J., Aepinus C., Jaussi R., Stein H., Valent P., Horny H. P.: Detection of c-kit mutation Asp 816 to Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomonocytic leukaemia. Mol Pathol 2000; 53: 188-193.
  53. Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, and Fumio Kaneko. c-kit Mutations in Patients with Childhood-Onset Mastocytosis and Genotype-Phenotype Correlation. J Molecular Diagnostics 2005; 7: 241-244.
  54. Sotlar Karl, Luis Escribano, Olfert Landt, Stefanie Mohrle, Sonia Herrero, Antonio Torrelo, Ulrich Lass, Hans-Peter Horny, and Burkhard Bultmann. 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: 737-746.
  55. Bradding P. Human Mast Cell Cytokines. CEA 1996; (26/1): 13-19.
  56. Valent P., Horny H. P., Escribano L., Longley B. J., Li C. Y., Schwartz L. B., et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 2001; 25: 603-625.
  57. Soter N. A. Mastocytosis and the skin. Hematol. Oncol. Clin. North Am 2000; (14): 557-564.
  58. Heide R., de Waard-van der Spek F. B., den Hollander J. C., Tank B., Oranje A. P. Efficacy of 25% diluted fluticasone propionate 0,05% cream as wet-wrap treatment in cutaneous mastocytosis. Dermatology 2007; 214: 333-335.
  59. Castells M. Mastocytosis: classification, diagnosis and clinical presentation. Allergy 2004; (25): 33-36.
  60. Granerus G., Roupe G., Swanbeck G. Decreased urinary histamine metabolite after successful PUVA treatment of urticaria pigmentosa. J Invest Dermatol 1981; 76: 1-3.
  61. Sokol K. C., Ghazi A., Kelly B. C., Grant J. A. Omalizumab as a desensitizing agent and treatment in mastocytosis: a review of the literature and case report. The journal of allergy and clinical immunology in practice, 2014; 2: 266-270.
  62. Lieberoth S., Thomsen S. F. Cutaneous and gastrointestinal symptoms in two patients with systemic mastocytosis: a review of the literature and case report. J allergy clini immunol practice 2015; 90: 35-41.
  63. Hoffmann K. M, Moser A., Lohse P., Winkler A., Binder B., Sovinz P. et al. Successful treatment of progressive cutaneous mastocytosis with imatinib in 2-year-oid boy carrying a somatic KIT mutation. Blood 2008; 112: 1655-1657.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2017 Proshutinskaya D.V., Makoveckaya O.S.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 60448 от 30.12.2014.


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies