KEGG   DISEASE: Cutaneous mastocytosis
Entry
H02896                      Disease                                
Name
Cutaneous mastocytosis
Description
Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (MASTC), mast cells infiltration is limited to the skin, whereas in systemic mastocytosis internal organs are involved. MASTC is divided into three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis, and mastocytoma of the skin. Mutations in KIT are observed in cutaneous mastocytosis. KIT encodes a type III transmembrane tyrosine kinase that is the receptor for stem cell factor.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myeloproliferative neoplasms
    2A21  Mastocytosis
     H02896  Cutaneous mastocytosis
Gene
KIT [HSA:3815] [KO:K05091]
Comment
Maculopapular cutaneous mastocytosis is also known as urticaria pigmentosa.
Other DBs
ICD-11: 2A21.1
MeSH: D034701
OMIM: 154800
Reference
  Authors
Bodemer C, Hermine O, Palmerini 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
  Title
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.
  Journal
J Invest Dermatol 130:804-15 (2010)
DOI:10.1038/jid.2009.281
Reference
  Authors
Zhang LY, Smith ML, Schultheis B, Fitzgibbon J, Lister TA, Melo JV, Cross NC, Cavenagh JD
  Title
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy.
  Journal
Leuk Res 30:373-8 (2006)
DOI:10.1016/j.leukres.2005.08.015
Reference
  Authors
Czarny J, Lange M, Lugowska-Umer H, Nowicki RJ
  Title
Cutaneous mastocytosis treatment: strategies, limitations and perspectives.
  Journal
Postepy Dermatol Alergol 35:541-545 (2018)
DOI:10.5114/ada.2018.77605
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