KEGG   DISEASE: H00947Help
Entry
H00947                      Disease                                

Name
Pilomatricoma;
Epithelioma calcificans of Malherbe
Description
Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
Wnt signaling pathway
Focal adhesion
Adherens junction
Tight junction
Leukocyte transendothelial migration
Melanogenesis
Pathways in cancer
Gene
CTNNB1 [HSA:1499] [KO:K02105]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:11708952 (description)
  Authors
Tsao H.
  Title
Genetics of nonmelanoma skin cancer.
  Journal
Arch Dermatol 137:1486-92 (2001)
Reference
PMID:10192393 (description, gene)
  Authors
Chan EF, Gat U, McNiff JM, Fuchs E
  Title
A common human skin tumour is caused by activating mutations in beta-catenin.
  Journal
Nat Genet 21:410-3 (1999)
Reference
PMID:15606674 (description, gene)
  Authors
Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm MC Jr, Redston M, McKee PH
  Title
Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin.
  Journal
J Cutan Pathol 32:148-57 (2005)

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