U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC

MedGen UID:
1669081
•Concept ID:
C4749139
•
Disease or Syndrome
OMIM®: 164920

Professional guidelines

PubMed

Systemic Mastocytosis: Advances in Diagnosis and Current Management.
Pullarkat ST, Wu W, Pullarkat V
Cancer Treat Res 2021;181:167-178. doi: 10.1007/978-3-030-78311-2_10. PMID: 34626361
Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.
Lange M, Hartmann K, Carter MC, Siebenhaar F, Alvarez-Twose I, Torrado I, Brockow K, Renke J, Irga-Jaworska N, Plata-Nazar K, Ługowska-Umer H, Czarny J, Belloni Fortina A, Caroppo F, Nowicki RJ, Nedoszytko B, Niedoszytko M, Valent P
Int J Mol Sci 2021 Mar 4;22(5) doi: 10.3390/ijms22052586. PMID: 33806685Free PMC Article
New insights into the pathogenesis, diagnosis, and management of mastocytosis.
Fuller SJ
Hematol Oncol Clin North Am 2012 Dec;26(6):1143-68. Epub 2012 Oct 9 doi: 10.1016/j.hoc.2012.08.008. PMID: 23116574

Recent clinical studies

Etiology

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches.
Valent P, Akin C, Gleixner KV, Sperr WR, Reiter A, Arock M, Triggiani M
Int J Mol Sci 2019 Jun 18;20(12) doi: 10.3390/ijms20122976. PMID: 31216696Free PMC Article
Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series.
Michelerio A, Grassi S, Elena C, Croci GA, Boveri E, Bossi G, Brazzelli V
Eur J Dermatol 2019 Apr 1;29(2):174-178. doi: 10.1684/ejd.2019.3532. PMID: 30973331
Update on Mastocytosis (Part 1): Pathophysiology, Clinical Features, and Diagnosis.
Azaña JM, Torrelo A, Matito A
Actas Dermosifiliogr 2016 Jan-Feb;107(1):5-14. Epub 2015 Nov 3 doi: 10.1016/j.ad.2015.09.007. PMID: 26546030
Mastocytosis: a rare case of anaphylaxis in paediatric age and literature review.
Silva I, Carvalho S, Pinto PL, Machado S, Rosado Pinto J
Allergol Immunopathol (Madr) 2008 May-Jun;36(3):154-63. PMID: 18680704

Diagnosis

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Precision Medicine in Systemic Mastocytosis.
Nicolosi M, Patriarca A, Andorno A, Mahmoud AM, Gennari A, Boldorini R, Gaidano G, Crisà E
Medicina (Kaunas) 2021 Oct 20;57(11) doi: 10.3390/medicina57111135. PMID: 34833353Free PMC Article
Mastocytosis: state of the art.
Horny HP, Sotlar K, Valent P
Pathobiology 2007;74(2):121-32. doi: 10.1159/000101711. PMID: 17587883
Mastocytosis.
Metcalfe DD
Novartis Found Symp 2005;271:232-42; discussion 242-9. PMID: 16605139
Mastocytosis: pathology, genetics, and current options for therapy.
Valent P, Akin C, Sperr WR, Mayerhofer M, Födinger M, Fritsche-Polanz R, Sotlar K, Escribano L, Arock M, Horny HP, Metcalfe DD
Leuk Lymphoma 2005 Jan;46(1):35-48. doi: 10.1080/10428190400010775. PMID: 15621779

Therapy

Mastocytosis: a rare case of anaphylaxis in paediatric age and literature review.
Silva I, Carvalho S, Pinto PL, Machado S, Rosado Pinto J
Allergol Immunopathol (Madr) 2008 May-Jun;36(3):154-63. PMID: 18680704
Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.
Hoffmann KM, Moser A, Lohse P, Winkler A, Binder B, Sovinz P, Lackner H, Schwinger W, Benesch M, Urban C
Blood 2008 Sep 1;112(5):1655-7. Epub 2008 Jun 20 doi: 10.1182/blood-2008-03-147785. PMID: 18567837

Prognosis

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Personalized Management Strategies in Mast Cell Disorders: ECNM-AIM User's Guide for Daily Clinical Practice.
Valent P, Hartmann K, Schwaab J, Alvarez-Twose I, Brockow K, Bonadonna P, Hermine O, Niedoszytko M, Carter MC, Hoermann G, Sperr WR, Butterfield JH, Ustun C, Zanotti R, Radia DH, Castells M, Triggiani M, Schwartz LB, Orfao A, George TI, Sotlar K, Gotlib J, Reiter A, Horny HP, Arock M, Akin C, Metcalfe DD
J Allergy Clin Immunol Pract 2022 Aug;10(8):1999-2012.e6. Epub 2022 Mar 25 doi: 10.1016/j.jaip.2022.03.007. PMID: 35342031
Mast cell disorders: From infancy to maturity.
Wilcock A, Bahri R, Bulfone-Paus S, Arkwright PD
Allergy 2019 Jan;74(1):53-63. Epub 2018 Nov 28 doi: 10.1111/all.13657. PMID: 30390314
Mastocytosis: state of the art.
Horny HP, Sotlar K, Valent P
Pathobiology 2007;74(2):121-32. doi: 10.1159/000101711. PMID: 17587883
Mastocytosis.
Metcalfe DD
Novartis Found Symp 2005;271:232-42; discussion 242-9. PMID: 16605139

Clinical prediction guides

Personalized Management Strategies in Mast Cell Disorders: ECNM-AIM User's Guide for Daily Clinical Practice.
Valent P, Hartmann K, Schwaab J, Alvarez-Twose I, Brockow K, Bonadonna P, Hermine O, Niedoszytko M, Carter MC, Hoermann G, Sperr WR, Butterfield JH, Ustun C, Zanotti R, Radia DH, Castells M, Triggiani M, Schwartz LB, Orfao A, George TI, Sotlar K, Gotlib J, Reiter A, Horny HP, Arock M, Akin C, Metcalfe DD
J Allergy Clin Immunol Pract 2022 Aug;10(8):1999-2012.e6. Epub 2022 Mar 25 doi: 10.1016/j.jaip.2022.03.007. PMID: 35342031

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...