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Current Overview on the Diagnosis and Management of Pediatric Mastocytosis

Yıl 2018, Cilt: 10 Sayı: 2, 11 - 17, 06.03.2018

Öz

Abstract

Mastocytosis, first described by Nettleship and Tay in 1869 as cutaneous mastcell disease, is characterized by the proliferation and accumulation of mast cells inprimarily skin and bone marrow and various other tissues e.g. the liver, spleen andlymph nodes. The abnormal increase and activity of mast cells in different tissuesleads to different clinical tables. Although not clear about the frequency, in one studythe prevalence in children referred to dermatology clinics was reported as 1/500. Themost common type of childhood mastocytosis is urticaria pigmentosa, which is characterized by skin disease. Systemic mastocytosis is very rare in childhood. In skinmastocytosis, diagnosis is often made with clinical experience, since the disease isnot recognized by most physicians in practice and thus it usually does not come tomind in the differential diagnosis, which usually leads to delay. Our aim in this review is to discuss about the diagnosis and management of childhood mastocytosisin the light of the recent literature.

Kaynakça

  • Kaynaklar 1. Nettleship J, Tay W. Rare forms of urticaria. Br Med J 1869;2:323-4. 2.Sangster A. An anomalous mottled rash, accompanied by pru-ritus, factitious urticaria and pigmentation, “urticaria pigmen-tosa (?)”. Trans Clin Soc London. 1878; 11:161. 3. Ellis J. Urticaria pigmentosa: a report of a case of autopsy. ArchPathol 1949; 48:426–35. 4. Degos R. Urticaria pigmentosa and other types of mastocytosis;attempted classification of cutaneous mastocytoses. Actas Der-mosifiliogr. 1955; 46:759–85. 5. Valent P, Horny HP, Escribano L, et al. Diagnostic Criteria andClassification of Mastocytosis: A Consensus Proposal. Leuk Res2001; 25:603–25. 6. Valent P, Akin C, Escribano L, et al. Standards and standardi-zation in mastocytosis: consensus statements on diagnostics, tre-atment recommendations and response criteria. Eur J Clin In-vest. 2007; 37:435–53. 7. Valent P, Akin C, Hartmann K, et al. Advances in the Classifica-tion and Treatment of Mastocytosis: Current Status and Outlooktoward the Future. Cancer Res. 2017; 77(6):1261-70. 8. Kettelhut BV, Parker RI, Travis WD, et al. Hematopathology ofthe bone marrow in pediatric cutaneous mastocytosis. A study of17 patients. Am J Clin Pathol 1989; 91:558–62. 9. Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy.1994; 73:197–202. 10. Soter NA. The skin in mastocytosis. J Invest Dermatol. 1991;96:32S–8S. 11. Azana JM, Torrelo A, Mediero IG, et al. Urticaria pigmentosa:a review of 67 pediatric cases. Pediatr Dermatol 1994; 11:102–6. 12. Worobec AS, Akin C, Scott LM, et al. Cytogenetic abnormaliti-es and their lack of relationship to the Asp816Val c-kit mutati-on in the pathogenesis of mastocytosis. J Allergy Clin Immunol1998; 102:523–4. 13. Sotlar K, Escribano L, Landt O, et al. One-Step Detection of c-kit Point Mutations Using PNAMediated PCR-Clamping andHybridization Probes. Am J Pathol 2003; 162:737–46. 14. Yanagihori H, Oyama N, Nakamura K, et al. c-kit Mutations inpatients with childhood-onset mastocytosis and genotype-phenoty-pe correlation. J Mol Diagn 2005; 7:252–7. 15. Yavuz AS. Mastositoz. HematoLog (Turk Hematoloji Derneği)2012: 2-1. 16. Caplan RM. The natural course of urticaria pigmentosa. Analy-sis and follow-up of 112 cases. Arch Dermatol. 1963; 87:146–57. 17. Wolff K, Komar M, Petzelbauer P. Clinical and histopathologicalaspects of cutaneous mastocytosis. Leuk Res. 2001;25:519-28. 18. Murphy M, Walsh D, Drumm B, et al. Bullous mastocytosis: afatal outcome. Pediatr Dermatol. 1999; 16:452–5. 19. Tamay Z, Özçeker D. Çocuklarda deri mastositozuna guncel yak-laşım. Turk Pediatri Ars 2016;51:123-7. 20. Kasper CS, Tharp MD. Quantification of cutaneous mast cellsusing morphometric point counting and a conjugated avidin sta-in. J Am Acad Dermatol. 1987; 16:326–31. 21. Garriga MM, Friedman MM, Metcalfe DD. A survey of the num-ber and distribution of mast cells in the skin of patients with mastcell disorders. J Allergy Clin Immunol 1988; 82:425–32. 22. Lange M, Niedoszytko M, Renke J, et al. Clinical aspects of pae-diatric mastocytosis: a review of 101 cases. J Eur Acad Derma-tol Venereol 2013; 27: 97-102. 23. Ferrante G, Scavone V, Muscia MC, et al. The care pathway forchildren with urticaria, angioedema, mastocytosis. World AllergyOrgan J 2015; 8: 5. 24. Castells M, Metcalfe D, Escribano L. Guidelines for the Diag-nosis and Treatment of Cutaneous Mastocytosis in Children. AmJ Clin Dermatol. 2011; 12(4): 259–270. 25. Heide R, Beishuizen A, De Groot H, et al. Dutch National Mas-tocytosis Work Group Mastocytosis in children: a protocol formanagement. Pediatr Dermatol 2008; 25:493-500. 26. Metcalfe DD. The treatment of mastocytosis: an overview. J In-vest Dermatol. 1991; 96:55S–6S. 27. Worobec AS, Metcalfe DD. Mastocytosis: Current treatment con-cepts. Int Arch Allergy Immunol. 2002; 127:153–5. 28. Worobec AS. Treatment of systemic mast cell disorders. Hema-tol Oncol Clin North Am. 2000;14:659–87. 29. Zhang MQ. Chemistry underlying the cardiotoxicity of antihis-tamines. Curr Med Chem. 1997;4:171–84. 30. Fenske NA, Lober CW, Pautler SE. Congenital bullous urtica-ria pigmentosa. Treatment with concomitant use of H1 and H2-receptor antagonists. Arch Dermatol. 1985; 121:115–8. 31. Haustein UF, Bedri M. Bullous mastocytosis in a child. Hautarzt.1997; 48:127–9. 32. Stainer R, Matthews S, Arshad SH, et al. Efficacy and accepta-bility of a new topical skin lotion of sodium cromoglicate (Alto-derm) in atopic dermatitis in children aged 2–12 years: a doub-le-blind, randomized, placebo-controlled trial. Br J Dermatol.2005; 152:334–41. 33. Escribano L, Garc.a-Belmonte D, Hern.ndez-Gonz.lez A, et al.Successful management of a case of diffuse cutaneous mastocy-tosis with recurrent anaphylactoid episodes and hypertension. JAllergy Clin Immunol 2004; 113:S335. 34. Greenblatt EP, Chen L. Urticaria pigmentosa: An anesthetic chal-lenge. J Clin Anesth 1990; 2:108–15. 35. Stellato C, De Paulis A, Cirillo R, et al. Heterogeneity of humanmast cells and basophils in response to muscle relaxants. Anest-hesiology 1991; 74:1078–86.

Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış

Yıl 2018, Cilt: 10 Sayı: 2, 11 - 17, 06.03.2018

Öz

Öz

1869’da Nettleship ve Tay tarafından ilk defa kutanöz mast hücre hastalığı olarak tarif edilmiş olan mastositoz, başta deri ve kemik iliği olmak üzere karaciğer, dalak ve lenf düğümleri gibi çeşitli dokularda mast hücrelerinin proliferasyonu ve biriikmesi ile karakterize bir hastalıktır. Mast hücrelerinin farklı dokulardaki anormalartışı ve etkinliği farklı klinik tablolara yol açar. Sıklık konusunda net veriler olmamakla beraber, bir çalışmada çocuk dermatoloji kliniklerine başvuran çocuklarda yaygınlığı 1/500 olarak bildirilmiştir. Çocukluk mastositozunun en yaygın tipi deri hastalığı ile karakterize olan ürtikerya pigmentoza’dır. Sistemik mastositoz çocukluk döneminde çok nadirdir. Deri mastositozunda çoğu zaman tanı klinik tecrübe ile konulur, ancak hastalık pratik hayatta çoğu hekim tarafından bilinmediğinden ayırıcıtanıda akla genellikle gelmemektedir ve bu da tanının çoğunlukla gecikmesine neden olmaktadır. Bu derlemede çocukluk çağı mastositozunun tanı ve tedavisini güncelliteratür bilgileri eşliğinde sunulması amaçlanmıştır.

Kaynakça

  • Kaynaklar 1. Nettleship J, Tay W. Rare forms of urticaria. Br Med J 1869;2:323-4. 2.Sangster A. An anomalous mottled rash, accompanied by pru-ritus, factitious urticaria and pigmentation, “urticaria pigmen-tosa (?)”. Trans Clin Soc London. 1878; 11:161. 3. Ellis J. Urticaria pigmentosa: a report of a case of autopsy. ArchPathol 1949; 48:426–35. 4. Degos R. Urticaria pigmentosa and other types of mastocytosis;attempted classification of cutaneous mastocytoses. Actas Der-mosifiliogr. 1955; 46:759–85. 5. Valent P, Horny HP, Escribano L, et al. Diagnostic Criteria andClassification of Mastocytosis: A Consensus Proposal. Leuk Res2001; 25:603–25. 6. Valent P, Akin C, Escribano L, et al. Standards and standardi-zation in mastocytosis: consensus statements on diagnostics, tre-atment recommendations and response criteria. Eur J Clin In-vest. 2007; 37:435–53. 7. Valent P, Akin C, Hartmann K, et al. Advances in the Classifica-tion and Treatment of Mastocytosis: Current Status and Outlooktoward the Future. Cancer Res. 2017; 77(6):1261-70. 8. Kettelhut BV, Parker RI, Travis WD, et al. Hematopathology ofthe bone marrow in pediatric cutaneous mastocytosis. A study of17 patients. Am J Clin Pathol 1989; 91:558–62. 9. Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy.1994; 73:197–202. 10. Soter NA. The skin in mastocytosis. J Invest Dermatol. 1991;96:32S–8S. 11. Azana JM, Torrelo A, Mediero IG, et al. Urticaria pigmentosa:a review of 67 pediatric cases. Pediatr Dermatol 1994; 11:102–6. 12. Worobec AS, Akin C, Scott LM, et al. Cytogenetic abnormaliti-es and their lack of relationship to the Asp816Val c-kit mutati-on in the pathogenesis of mastocytosis. J Allergy Clin Immunol1998; 102:523–4. 13. Sotlar K, Escribano L, Landt O, et al. One-Step Detection of c-kit Point Mutations Using PNAMediated PCR-Clamping andHybridization Probes. Am J Pathol 2003; 162:737–46. 14. Yanagihori H, Oyama N, Nakamura K, et al. c-kit Mutations inpatients with childhood-onset mastocytosis and genotype-phenoty-pe correlation. J Mol Diagn 2005; 7:252–7. 15. Yavuz AS. Mastositoz. HematoLog (Turk Hematoloji Derneği)2012: 2-1. 16. Caplan RM. The natural course of urticaria pigmentosa. Analy-sis and follow-up of 112 cases. Arch Dermatol. 1963; 87:146–57. 17. Wolff K, Komar M, Petzelbauer P. Clinical and histopathologicalaspects of cutaneous mastocytosis. Leuk Res. 2001;25:519-28. 18. Murphy M, Walsh D, Drumm B, et al. Bullous mastocytosis: afatal outcome. Pediatr Dermatol. 1999; 16:452–5. 19. Tamay Z, Özçeker D. Çocuklarda deri mastositozuna guncel yak-laşım. Turk Pediatri Ars 2016;51:123-7. 20. Kasper CS, Tharp MD. Quantification of cutaneous mast cellsusing morphometric point counting and a conjugated avidin sta-in. J Am Acad Dermatol. 1987; 16:326–31. 21. Garriga MM, Friedman MM, Metcalfe DD. A survey of the num-ber and distribution of mast cells in the skin of patients with mastcell disorders. J Allergy Clin Immunol 1988; 82:425–32. 22. Lange M, Niedoszytko M, Renke J, et al. Clinical aspects of pae-diatric mastocytosis: a review of 101 cases. J Eur Acad Derma-tol Venereol 2013; 27: 97-102. 23. Ferrante G, Scavone V, Muscia MC, et al. The care pathway forchildren with urticaria, angioedema, mastocytosis. World AllergyOrgan J 2015; 8: 5. 24. Castells M, Metcalfe D, Escribano L. Guidelines for the Diag-nosis and Treatment of Cutaneous Mastocytosis in Children. AmJ Clin Dermatol. 2011; 12(4): 259–270. 25. Heide R, Beishuizen A, De Groot H, et al. Dutch National Mas-tocytosis Work Group Mastocytosis in children: a protocol formanagement. Pediatr Dermatol 2008; 25:493-500. 26. Metcalfe DD. The treatment of mastocytosis: an overview. J In-vest Dermatol. 1991; 96:55S–6S. 27. Worobec AS, Metcalfe DD. Mastocytosis: Current treatment con-cepts. Int Arch Allergy Immunol. 2002; 127:153–5. 28. Worobec AS. Treatment of systemic mast cell disorders. Hema-tol Oncol Clin North Am. 2000;14:659–87. 29. Zhang MQ. Chemistry underlying the cardiotoxicity of antihis-tamines. Curr Med Chem. 1997;4:171–84. 30. Fenske NA, Lober CW, Pautler SE. Congenital bullous urtica-ria pigmentosa. Treatment with concomitant use of H1 and H2-receptor antagonists. Arch Dermatol. 1985; 121:115–8. 31. Haustein UF, Bedri M. Bullous mastocytosis in a child. Hautarzt.1997; 48:127–9. 32. Stainer R, Matthews S, Arshad SH, et al. Efficacy and accepta-bility of a new topical skin lotion of sodium cromoglicate (Alto-derm) in atopic dermatitis in children aged 2–12 years: a doub-le-blind, randomized, placebo-controlled trial. Br J Dermatol.2005; 152:334–41. 33. Escribano L, Garc.a-Belmonte D, Hern.ndez-Gonz.lez A, et al.Successful management of a case of diffuse cutaneous mastocy-tosis with recurrent anaphylactoid episodes and hypertension. JAllergy Clin Immunol 2004; 113:S335. 34. Greenblatt EP, Chen L. Urticaria pigmentosa: An anesthetic chal-lenge. J Clin Anesth 1990; 2:108–15. 35. Stellato C, De Paulis A, Cirillo R, et al. Heterogeneity of humanmast cells and basophils in response to muscle relaxants. Anest-hesiology 1991; 74:1078–86.
Toplam 1 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm makale
Yazarlar

Prof. Dr. Öner Özdemir

Yayımlanma Tarihi 6 Mart 2018
Yayımlandığı Sayı Yıl 2018 Cilt: 10 Sayı: 2

Kaynak Göster

APA Özdemir, P. D. Ö. (2018). Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış. Klinik Tıp Pediatri Dergisi, 10(2), 11-17.
AMA Özdemir PDÖ. Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış. Pediatri. Mart 2018;10(2):11-17.
Chicago Özdemir, Prof. Dr. Öner. “Çocukluk Çağı Mastositozunun Tanı Ve Tedavisine Güncel Bakış”. Klinik Tıp Pediatri Dergisi 10, sy. 2 (Mart 2018): 11-17.
EndNote Özdemir PDÖ (01 Mart 2018) Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış. Klinik Tıp Pediatri Dergisi 10 2 11–17.
IEEE P. D. Ö. Özdemir, “Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış”, Pediatri, c. 10, sy. 2, ss. 11–17, 2018.
ISNAD Özdemir, Prof. Dr. Öner. “Çocukluk Çağı Mastositozunun Tanı Ve Tedavisine Güncel Bakış”. Klinik Tıp Pediatri Dergisi 10/2 (Mart 2018), 11-17.
JAMA Özdemir PDÖ. Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış. Pediatri. 2018;10:11–17.
MLA Özdemir, Prof. Dr. Öner. “Çocukluk Çağı Mastositozunun Tanı Ve Tedavisine Güncel Bakış”. Klinik Tıp Pediatri Dergisi, c. 10, sy. 2, 2018, ss. 11-17.
Vancouver Özdemir PDÖ. Çocukluk Çağı Mastositozunun Tanı ve Tedavisine Güncel Bakış. Pediatri. 2018;10(2):11-7.