Diagnostic Considerations

Also consider the following:

Generalized eruptive histiocytoma
Histiocytosis X
Non-X histiocytosis of childhood
Secondary syphilis
Xanthogranuloma ^[35]
Carcinoid ^[36]
Leiomyoma ^[22]

Differential Diagnoses

Achlorhydria
Cafe Au Lait Spots
Carcinoid
Congenital melanocytic nevus
Congenital smooth muscle hamartoma
Cutaneous Pseudolymphoma
Dermatologic Manifestations of Herpes Simplex
Epidermolysis Bullosa
Juvenile Xanthogranuloma
Leiomyoma
Lentigo
Linear IgA Dermatosis
Lymphocytoma Cutis
Nodular Localized Cutaneous Amyloidosis
Postinflammatory Hyperpigmentation

Workup

Valent P. Diagnostic evaluation and classification of mastocytosis. Immunol Allergy Clin North Am. 2006 Aug. 26(3):515-34. [QxMD MEDLINE Link].
Patnaik MM, Rindos M, Kouides PA, Tefferi A, Pardanani A. Systemic mastocytosis: a concise clinical and laboratory review. Arch Pathol Lab Med. 2007 May. 131(5):784-91. [QxMD MEDLINE Link].
Horny HP, Sotlar K, Valent P. Mastocytosis: state of the art. Pathobiology. 2007. 74(2):121-32. [QxMD MEDLINE Link].
Vlieg-Boerstra BJ, van der Heide S, Oude Elberink JN, Kluin-Nelemans JC, Dubois AE. Mastocytosis and adverse reactions to biogenic amines and histamine-releasing foods: what is the evidence?. Neth J Med. 2005 Jul-Aug. 63(7):244-9. [QxMD MEDLINE Link].
Nedoszytko B, Sobalska-Kwapis M, Strapagiel D, Lange M, Górska A, Elberink JNGO, et al. Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups. Int J Mol Sci. 2020 Jul 31. 21 (15):[QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Ahmed A, Jan A. Mastocytoma. StatPearls [Internet]. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
Macri A, Cook C. Urticaria Pigmentosa (Cutaneous Mastocytosis). StatPearls [Internet]. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
Hussain SH. Pediatric mastocytosis. Curr Opin Pediatr. 2020 Aug. 32 (4):531-538. [QxMD MEDLINE Link].
Bussmann C, Hagemann T, Hanfland J, Haidl G, Bieber T, Novak N. Flushing and increase of serum tryptase after mechanical irritation of a solitary mastocytoma. Eur J Dermatol. 2007 Jul-Aug. 17(4):332-4. [QxMD MEDLINE Link].
Vannucchi AM, Guglielmelli P, Tefferi A. Advances in understanding and management of myeloproliferative neoplasms. CA Cancer J Clin. 2009 May-Jun. 59(3):171-91. [QxMD MEDLINE Link].
Ferretti E, Corcione A, Pistoia V. The IL-31/IL-31 receptor axis: general features and role in tumor microenvironment. J Leukoc Biol. 2017 Apr 13. [QxMD MEDLINE Link].
Hartmann K, Artuc M, Baldus SE, et al. Expression of Bcl-2 and Bcl-xL in cutaneous and bone marrow lesions of mastocytosis. Am J Pathol. 2003 Sep. 163(3):819-26. [QxMD MEDLINE Link].
Noack F, Escribano L, Sotlar K, et al. Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. Leuk Lymphoma. 2003 Feb. 44(2):313-9. [QxMD MEDLINE Link].
Brockow K, Akin C, Huber M, Metcalfe DD. IL-6 levels predict disease variant and extent of organ involvement in patients with mastocytosis. Clin Immunol. 2005 May. 115(2):216-23. [QxMD MEDLINE Link].
Bodemer C, Hermine O, Palmerini F, 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. [QxMD MEDLINE Link].
Górska A, Gruchała-Niedoszytko M, Niedoszytko M, Maciejewska A, Chełmińska M, Skrzypski M, et al. The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis. Arch Immunol Ther Exp (Warsz). 2016 Dec. 64 (6):497-503. [QxMD MEDLINE Link].
Lappe U, Aumann V, Mittler U, Gollnick H. Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. J Eur Acad Dermatol Venereol. 2003 Nov. 17(6):718-22. [QxMD MEDLINE Link].
Soilleux EJ, Brown VL, Bowling J. Cutaneous mastocytosis localized to a radiotherapy field. Clin Exp Dermatol. 2009 Jan. 34(1):111-2. [QxMD MEDLINE Link].
Soilleux EJ, Grills C, Cooper SM. Cutaneous mastocytosis in human immunodeficiency virus: an unfortunate coincidence?. Clin Exp Dermatol. 2008 Aug. 33(5):619-21. [QxMD MEDLINE Link].
Theoharides TC. Autism spectrum disorders and mastocytosis. Int J Immunopathol Pharmacol. 2009 Oct-Dec. 22(4):859-65. [QxMD MEDLINE Link].
Rothe MJ, Grant-Kels JM, Makkar HS. Mast cell disorders: Kids are not just little people. Clin Dermatol. 2016 Nov - Dec. 34 (6):760-766. [QxMD MEDLINE Link].
Alvarez-Twose I, Vano-Galvan S, Sanchez-Munoz 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 Jun. 67(6):813-21. [QxMD MEDLINE Link]. [Full Text].
Heide R, van Doorn K, Mulder PG, van Toorenenbergen AW, Beishuizen A, de Groot H, et al. Serum tryptase and SCORMA (SCORing MAstocytosis) Index as disease severity parameters in childhood and adult cutaneous mastocytosis. Clin Exp Dermatol. 2009 Jun. 34(4):462-8. [QxMD MEDLINE Link].
Lange M, Niedoszytko M, Nedoszytko B, Lata J, Trzeciak M, Biernat W. Diffuse cutaneous mastocytosis: analysis of 10 cases and a brief review of the literature. J Eur Acad Dermatol Venereol. 2011 Nov 18. [QxMD MEDLINE Link].
Tate C, Tang F, Lane SW, Seymour L. Clinical and molecular categorization of progressive, adult-onset cutaneous mastocytosis. JAAD Case Rep. 2018 Jan. 4 (1):30-32. [QxMD MEDLINE Link].
Chantorn R, Shwayder T. Death from Mast Cell Leukemia: A Young Patient with Longstanding Cutaneous Mastocytosis Evolving into Fatal Mast Cell Leukemia. Pediatr Dermatol. 2012 Feb 14. [QxMD MEDLINE Link].
Auquit-Auckbur I, Lazar C, Deneuve S, Guillemet C, Cordel N, Blanchard F, et al. Malignant transformation of mastocytoma developed on skin mastocytosis into cutaneous mast cell sarcoma. Am J Surg Pathol. 2012 May. 36(5):779-82. [QxMD MEDLINE Link].
Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008 Feb. 63(2):226-32. [QxMD MEDLINE Link].
Heide R, Beishuizen A, De Groot H, et al. Mastocytosis in children: a protocol for management. Pediatr Dermatol. 2008 Jul-Aug. 25(4):493-500. [QxMD MEDLINE Link].
Stein JA, Kamino H, Walters RF, Pomeranz MK. Mastocytosis with urticaria pigmentosa and osteoporosis. Dermatol Online J. 2008 Oct 15. 14(10):2. [QxMD MEDLINE Link].
Siebenhaar F, Sander B, Ho LHT, Ellrich A, Maurer M, Weller K. Development and validation of the mastocytosis activity score. Allergy. 2018 Feb 6. [QxMD MEDLINE Link].
Xu X, Solky B, Elenitsas R, Cotsarelis G. Scarring alopecia associated with mastocytosis. J Cutan Pathol. 2003 Oct. 30(9):561-5. [QxMD MEDLINE Link].
Kirsch R, Geboes K, Shepherd NA, et al. Systemic mastocytosis involving the gastrointestinal tract: clinicopathologic and molecular study of five cases. Mod Pathol. 2008 Dec. 21(12):1508-16. [QxMD MEDLINE Link].
Matsumoto M, Ikeda M, Takeya M, Kodama H. Plane xanthoma associated with multiple mastocytoma. Pediatr Dermatol. 2007 Sep-Oct. 24(5):E66-9. [QxMD MEDLINE Link].
Butterfield JH. Systemic mastocytosis: clinical manifestations and differential diagnosis. Immunol Allergy Clin North Am. 2006 Aug. 26(3):487-513. [QxMD MEDLINE Link].
Schwartz LB. Diagnostic value of tryptase in anaphylaxis and mastocytosis. Immunol Allergy Clin North Am. 2006 Aug. 26(3):451-63. [QxMD MEDLINE Link].
Van Gysel D, Oranje AP, Vermeiden I, de Lijster de Raadt J, Mulder PG, van Toorenenbergen AW. Value of urinary N-methylhistamine measurements in childhood mastocytosis. J Am Acad Dermatol. 1996 Oct. 35(4):556-8. [QxMD MEDLINE Link].
Jordon RE. Immunologic Diseases of the Skin. East Norwalk, Conn: Appleton & Lange; 1991. 245-8.
Marrero Alemán G, El Habr C, Islas Norris D, Montenegro Dámaso T, Borrego L, Sangueza OP. Cutaneous Mastocytosis With Atypical Mast Cells in a 7-Year-Old Girl. Am J Dermatopathol. 2017 Apr. 39 (4):310-312. [QxMD MEDLINE Link].
Verma KK, Bhat R, Singh MK. Bullous mastocytosis treated with oral betamethasone therapy. Indian J Pediatr. 2004 Mar. 71(3):261-3. [QxMD MEDLINE Link].
Kinsler VA, Hawk JL, Atherton DJ. Diffuse cutaneous mastocytosis treated with psoralen photochemotherapy: case report and review of the literature. Br J Dermatol. 2005 Jan. 152(1):179-80. [QxMD MEDLINE Link].
Gobello T, Mazzanti C, Sordi D, et al. Medium- versus high-dose ultraviolet A1 therapy for urticaria pigmentosa: a pilot study. J Am Acad Dermatol. 2003 Oct. 49(4):679-84. [QxMD MEDLINE Link].
Brazzelli V, Grassi S, Merante S, Grasso V, Ciccocioppo R, Bossi G, et al. Narrow-band UVB phototherapy and psoralen-ultraviolet A photochemotherapy in the treatment of cutaneous mastocytosis: a study in 20 patients. Photodermatol Photoimmunol Photomed. 2016 Jun 29. [QxMD MEDLINE Link].
Wilson TM, Metcalfe DD, Robyn J. Treatment of systemic mastocytosis. Immunol Allergy Clin North Am. 2006 Aug. 26(3):549-73. [QxMD MEDLINE Link].
Krishnan K, Ramu V, Krishnaswamy G, Vardhana H. Mastocytosis, Systemic. Medscape Reference. December 4, 2008. [Full Text].
Pardanani A. Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management. Am J Hematol. 2012 Apr. 87(4):401-11. [QxMD MEDLINE Link].
Hoffmann KM, Moser A, Lohse P, et al. Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation. Blood. 2008 Sep 1. 112(5):1655-7. [QxMD MEDLINE Link].
Bains SN, Hsieh FH. Current approaches to the diagnosis and treatment of systemic mastocytosis. Ann Allergy Asthma Immunol. 2010 Jan. 104(1):1-10; quiz 10-2, 41. [QxMD MEDLINE Link].
Paul C, Sans B, Suarez F, Casassus P, Barete S, Lanternier F, et al. Masitinib for the treatment of systemic and cutaneous mastocytosis with handicap: a phase 2a study. Am J Hematol. 2010 Dec. 85(12):921-5. [QxMD MEDLINE Link].
Siebenhaar F, Kuhn W, Zuberbier T, Maurer M. Successful treatment of cutaneous mastocytosis and Ménière disease with anti-IgE therapy. J Allergy Clin Immunol. 2007 Jul. 120(1):213-5. [QxMD MEDLINE Link].
Sokol KC, Ghazi A, Kelly BC, Grant JA. Omalizumab as a desensitizing agent and treatment in mastocytosis: a review of the literature and case report. J Allergy Clin Immunol Pract. 2014 May-Jun. 2(3):266-70. [QxMD MEDLINE Link].
Hughes JDM, Olynyc T, Chapdelaine H, Segal L, Miedzybrodzki B, Ben-Shoshan M. Effective management of severe cutaneous mastocytosis in young children with omalizumab (Xolair^® ). Clin Exp Dermatol. 2018 Feb 16. [QxMD MEDLINE Link].
Jendoubi F, Gaudenzio N, Gallini A, Negretto M, Paul C, Bulai Livideanu C. Omalizumab in the treatment of adult patients with mastocytosis: A systematic review. Clin Exp Allergy. 2020 Jun. 50 (6):654-661. [QxMD MEDLINE Link].
Ma Z, Jiao Z. Mast cells as targets of pimecrolimus. Curr Pharm Des. 2011 Nov. 17(34):3823-9. [QxMD MEDLINE Link].
Mashiah J, Harel A, Bodemer C, Hadj-Rabia S, Goldberg I, Sprecher E, et al. Topical pimecrolimus for paediatric cutaneous mastocytosis. Clin Exp Dermatol. 2018 Feb 20. [QxMD MEDLINE Link].
Ellis DL. Treatment of telangiectasia macularis eruptiva perstans with the 585-nm flashlamp-pumped dye laser. Dermatol Surg. 1996 Jan. 22(1):33-7. [QxMD MEDLINE Link].
Resh B, Jones E, Glaser DA. The cosmetic treatment of urticaria pigmentosa with Nd:YAG laser at 532 nanometers. J Cosmet Dermatol. 2005 Jun. 4(2):78-82. [QxMD MEDLINE Link].
Trizuljak J, Sperr WR, Nekvindová L, et al. Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification. Allergy. 2020 Aug. 75 (8):1923-1934. [QxMD MEDLINE Link].

Media Gallery

Urticaria pigmentosa lesions on the face of a child. Courtesy of Lee H. Grafton, MD.
Urticaria pigmentosa lesions on the back of a child. Courtesy of Lee H. Grafton, MD.
Lesion on the scalp of an infant.
Lesion on the arm. Courtesy of Lee H. Grafton, MD.
Blistering lesion.
Hematoxylin and eosin stain revealing mast cells in the papillary dermis.
Giemsa stain revealing mast cells.
Positive Darier sign on a child's back.
Urticaria pigmentosa on a child.

of 9

Author

Jacquiline Habashy, DO, MSc Resident Physician, Department of Dermatology, Western University of Health Sciences College of Osteopathic Medicine of the Pacific

Jacquiline Habashy, DO, MSc is a member of the following medical societies: American Osteopathic College of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

David T Robles, MD, PhD, FAAD Dermatologist, Oak Tree Dermatology

David T Robles, MD, PhD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD Herman Beerman Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society of Dermatopathology, Pennsylvania Academy of Dermatology

Disclosure: Received royalty from Lippincott Williams Wilkins for textbook editor.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Daniel J Hogan, MD Clinical Professor of Internal Medicine (Dermatology), Nova Southeastern University College of Osteopathic Medicine; Investigator, Hill Top Research, Florida Research Center

Daniel J Hogan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Contact Dermatitis Society, Canadian Dermatology Association

Disclosure: Nothing to disclose.

Timothy McCalmont, MD Director, UCSF Dermatopathology Service, Professor of Clinical Pathology and Dermatology, Departments of Pathology and Dermatology, University of California at San Francisco; Editor-in-Chief, Journal of Cutaneous Pathology

Timothy McCalmont, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Association, American Society of Dermatopathology, California Medical Association, College of American Pathologists, United States and Canadian Academy of Pathology

Disclosure: Received consulting fee from Apsara for independent contractor.

Christin M Mastrodomenico, MD Louisiana State University School of Medicine-Shreveport

Christin M Mastrodomenico, MD is a member of the following medical societies: American Medical Association, Louisiana State Medical Society, Student National Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Virginia Pylant Lewis, MD, to the development and writing of this article.