KEGG DISEASE: 皮膚肥満細胞症

DISEASE: 皮膚肥満細胞症

エントリ

H02896

名称

皮膚肥満細胞症

概要

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.

カテゴリ

新生物

階層分類

ICD-11 による疾患分類 [BR:jp08403]
02 腫瘍
  造血またはリンパ組織の腫瘍
   骨髄増殖性腫瘍
    2A21  肥満細胞症
     H02896  皮膚肥満細胞症

病因遺伝子

KIT [HSA:3815] [KO:K05091]

Maculopapular cutaneous mastocytosis is also known as urticaria pigmentosa.

リンク

ICD-11:

2A21.1

MeSH:

D034701

OMIM:

154800

文献

PMID:19865100

著者

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

タイトル

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

雑誌

J Invest Dermatol 130:804-15 (2010)
DOI:10.1038/jid.2009.281

文献

PMID:16183119

著者

Zhang LY, Smith ML, Schultheis B, Fitzgibbon J, Lister TA, Melo JV, Cross NC, Cavenagh JD

タイトル

A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy.

雑誌

Leuk Res 30:373-8 (2006)
DOI:10.1016/j.leukres.2005.08.015