T.V. Frolova, I.I. Tereshchenkova, N.F. Stenkova
Kharkiv National Medical University, Department of Propaedeutic of paediatrics № 1
The article presents mastocytosis – a rare disease in children, data on its prevalence, etiopathogenetic aspects, clinical manifestations, diagnostic features and principles of treatment. A clinical case of cutaneous mastocytosis in a child aged 11 months is presented. Attention is paid to family doctors and pediatricians on the features of timely diagnosis of this disease in children.
Keywords: mastocytosis, mast cell, children, skin, urticaria pigmentosa.
https://dx.doi.org/10.15407/internalmed2018.01.022
Frolova TV, Tereshchenkova II, Stenkova NF. [Mastocytosis in practice of a family doctors]. Shidnoevr. z. vnutr. simejnoi med. 2018;1:22-27. Ukrainian.
1. Bolotna L.A Tuchnye kletki i mastocitoz [Mast cells and mastocytosis]. Dermatologіja ta venerologіja. 2016;3:5-14. Russian | ||||
2. Proshutinskaja DV, Makoveckaja OS. Klinicheskaja harakteristika kozhnih form mastocitoza u detej. In: XVI Vseros. sezd dermatovenerologov i kosmetologov. 2016 June 14-17; Moskow, Russian Federation; 2016. P. 31-32. Russian | ||||
3. Sinel’nikova NA, Kalinina NM, Savenkova ND. Hronicheskaja krapivnica v detskom vozraste. Formy hronicheskoj krapivnicy u detej. Differencial’naja diagnostika (chast’ II). Medicinskaja immunologija. 2013;16(4):313-24. Russian | ||||
4. Spirina VG, Mashhenko JuV. Osobennosti techenija pigmentnoj krapivnicy u detej. Bjulleten’ med. internet-konf. 2014;4(4):276. Russian | ||||
5. Abraham SN, St John AL. Mast cell-orchestrated immunity to pathogens. Nat Rev Immunol. 2010 Jun;10(6):440-52. doi: 10.1038/nri2782.PMID: 20498670 PMCID: PMC4469150 | ||||
6. Akdis CA, Jutel M, Akdis M. Regulatory effects of histamine and histamine receptor expression in human allergic immune responses. Chem Immunol Allergy. 2008;94:67-82. doi: 10.1159/000154858. PMID: 18802338 https://doi.org/10.1159/000154858 |
||||
7. Akin C, Valent P. Diagnostic criteria and classification of mastocytosis in 2014. Immunol Allergy Clin North Am. 2014 May;34(2):207-18. doi: 10.1016/j.iac.2014.02.003. PMID: 24745670 https://doi.org/10.1016/j.iac.2014.02.003 |
||||
8. Alvarez-Twose I, Va-ó-Galván S, Sánchez-Mu-oz L, Morgado JM, Matito A, Torrelo A, Jaén P, Schwartz LB, Orfao A, Escribano L. 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 Jun;67(6):813-21. doi: 10.1111/j.1398-9995.2012.02812.x. Epub 2012 Mar 28. PMID: 22458675 PMCID: PMC3349769 https://doi.org/10.1111/j.1398-9995.2012.02812.x |
||||
9. Bonadonna P, Pagani M, Aberer W, Bilò MB, Brockow K, Oude Elberink H, Garvey L, Mosbech H, Romano A, Zanotti R, Torres MJ. Drug hypersensitivity in clonal mast cell disorders: ENDA/EAACI position paper. Allergy. 2015 Jul;70(7):755-63. doi: 10.1111/all.12617. Epub 2015 Apr 24. PMID: 25824492 https://doi.org/10.1111/all.12617 |
||||
10. Carter MC, Clayton ST, Komarow HD, Brittain EH, Scott LM, Cantave D, Gaskins DM, Maric I, Metcalfe DD. 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. doi: 10.1016/j.jaci.2015.04.024. Epub 2015 Jun 1. PMID: 26044856 PMCID: PMC4984538 https://doi.org/10.1016/j.jaci.2015.04.024 |
||||
11. Carter MC, Carter MC, Metcalf DD. Pediatric mastocytosis. Arch. Dis. Child. 2002;86:315-19. PMID:11970917; PMCID:PMC1751103 | ||||
12. VAN Gysel D, DE Maeseneer H, Oranje AP. Mastocytosis: a comprehensive insight. G Ital Dermatol Venereol. 2016 Aug;151(4):385-96. Epub 2016 Apr 12. PMID: 27070304 | ||||
13. Escribano L, Akin C, Castells M, Schwartz LB. Current options in the treatment of mast cell mediator-related symptoms in mastocytosis. Inflamm Allergy Drug Targets. 2006 Jan;5(1):61-77.PMID: 16613565 | ||||
14. Escribano L, Akin C, Castells M, Orfao A, Metcalfe DD. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol. 2002 Dec;81(12):677-90. Epub 2002 Nov 29. PMID: 12483363 | ||||
15. Gülen T, Hägglund H, Dahlén B, Nilsson G. Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease. J Intern Med. 2016 Mar;279(3):211-28. doi: 10.1111/joim.12410. Epub 2015 Sep 8. PMID: 26347286 https://doi.org/10.1111/joim.12410 |
||||
16. Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, Matito A, Broesby-Olsen S, Siebenhaar F, Lange M, Niedoszytko M, Castells M, Oude Elberink JNG, Bonadonna P, Zanotti R, Hornick JL, Torrelo A, Grabbe J, Rabenhorst A, Nedoszytko B, Butterfield JH, Gotlib J, Reiter A, Radia D, Hermine O, Sotlar K, George TI, Kristensen TK, Kluin-Nelemans HC, Yavuz S, Hägglund H, Sperr WR, Schwartz LB, Triggiani M, Maurer M, Nilsson G, Horny HP, Arock M, Orfao A, Metcalfe DD, Akin C, Valent P. 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. doi: 10.1016/j.jaci.2015.08.034. Epub 2015 Oct 21. PMID: 26476479 https://doi.org/10.1016/j.jaci.2015.08.034 |
||||
17. Hartmann K, Henz BM. Mastocytosis: recent advances in defining the disease. Br J Dermatol. 2001 Apr;144(4):682-95.PMID: 11298525 | ||||
18. Horny HP, Akin C, Arber D. Mastocytosis. In: Swerdlow SH, Campo E, Harris NL, et al., eds. World Health Organization (WHO) Classification of Tumours. Pathology & Genetics. Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2016. | ||||
19. James WD, Berger TG, Elston DM, editors. Andrews’ Diseases of the Skin. Clinical Dermatology, 10th Edition. Saunders. Elsevier. 2006. P. 615–19. | ||||
20. Kunnath MS, Minnaar G. A case of non-pigment forming cutaneous mastocytosis, masquerading as infantile eczema. Arch Dis Child. 2010;95:A26–7. | ||||
21. Lange M, Nedoszytko B, Górska A, Zawrocki A, Sobjanek M, Kozlowski D. Mastocytosis in children and adults: clinical disease heterogeneity. Arch Med Sci. 2012 Jul 4;8(3):533-41. doi: 10.5114/aoms.2012.29409. PMID: 22852012 PMCID: PMC3400919 | ||||
22. Lange M, Zawadzka A, Schrörs S, Słomka J, Ługowska-Umer H, Nedoszytko B, Nowicki R. The role of serum tryptase in the diagnosis and monitoring of pediatric mastocytosis: a single-center experience. Postepy Dermatol Alergol. 2017 Aug;34(4):306-312. doi: 10.5114/ada.2017.69308. Epub 2017 Aug 1. PMID: 28951704 PMCID: PMC5560177 https://doi.org/10.5114/ada.2017.69308 |
||||
23. Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001 Jul;25(7):571-6. PMID: 11377682 | ||||
24. Frieri M, Quershi M. Pediatric Mastocytosis: A Review of the Literature. Pediatr Allergy Immunol Pulmonol. 2013 Dec 1;26(4):175-180. PMID: 24380017 PMCID: PMC3869446 | ||||
25. Orfao A, Garcia-Montero AC, Sanchez L, Escribano L; REMA. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007 Jul;138(1):12-30. PMID: 17555444 DOI: 10.1111/j.1365-2141.2007.06619.x https://doi.org/10.1111/j.1365-2141.2007.06619.x |
||||
26. Pardanani A. Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management. Am J Hematol. 2016 Nov;91(11):1146-1159. doi: 10.1002/ajh.24553. PMID: 27762455 https://doi.org/10.1002/ajh.24553 |
||||
27. Ben-Amitai D, Metzker A, Cohen HA. Pediatric cutaneous mastocytosis: a review of 180 patients. Isr Med Assoc J. 2005 May;7(5):320-2. PMID: 15909466 | ||||
28. Bodemer C, Hermine O, Palmérini F, Yang Y, Grandpeix-Guyodo C, Leventhal PS, Hadj-Rabia S, Nasca L, Georgin-Lavialle S, Cohen-Akenine A, Launay JM, Barete S, Feger F, Arock M, Catteau B, Sans B, Stalder JF, Skowron F, Thomas L, Lorette G, Plantin P, Bordigoni P, Lortholary O, de Prost Y, Moussy A, Sobol H, Dubreuil P. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol. 2010 Mar;130(3):804-15. doi: 10.1038/jid.2009.281. Epub 2009 Oct 29. PMID: 19865100 https://doi.org/10.1038/jid.2009.281 |
||||
29. Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017 Mar 16;129(11):1420-1427. doi: 10.1182/blood-2016-09-731893. Epub 2016 Dec 28. PMID: 28031180 PMCID: PMC5356454 [Available on 2018-03-16] | ||||
30. Sokol H, Georgin-Lavialle S, Canioni D, Barete S, Damaj G, Soucie E, Bruneau J, Chandesris MO, Suarez F, Launay JM, Aouba A, Grandpeix-Guyodo C, Lanternier F, Grosbois B, de Gennes C, Cathébras P, Fain O, Hoyeau-Idrissi N, Dubreuil P, Lortholary O, Beaugerie L, Ranque B, Hermine O. Gastrointestinal manifestations in mastocytosis: a study of 83 patients. J Allergy Clin Immunol. 2013 Oct;132(4):866-73.e1-3. doi: 10.1016/j.jaci.2013.05.026. Epub 2013 Jul 26. PMID: 23890756 https://doi.org/10.1016/j.jaci.2013.05.026 |
||||
31. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 WHO criteria and point-of-care diagnostic algorithms. Leukemia. 2008 Jan;22(1):14-22. Epub 2007 Sep 20. PMID:17882280; DOI:10.1038/sj.leu.2404955 https://doi.org/10.1038/sj.leu.2404955 |
||||
32. Wilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, Carter M, Maric D, Robyn J, Metcalfe DD. Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. Haematologica. 2011 Mar;96(3):459-63. doi: 10.3324/haematol.2010.031690. Epub 2010 Dec 6. PMID: 21134978 PMCID: PMC3046279 https://doi.org/10.3324/haematol.2010.031690 |