KEGG   DISEASE: PilomatricomaHelp
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
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H00947  Pilomatricoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    Benign cutaneous neoplasms
     2F22  Benign neoplasms of epidermal appendages
      H00947  Pilomatricoma
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04670  Leukocyte transendothelial migration
hsa04916  Melanogenesis
hsa05200  Pathways in cancer
Gene
CTNNB1 [HSA:1499] [KO:K02105]
Other DBs
ICD-11: 2F22
ICD-10: D23
MeSH: D018296
OMIM: 132600
Reference
  Authors
Tsao H.
  Title
Genetics of nonmelanoma skin cancer.
  Journal
Arch Dermatol 137:1486-92 (2001)
Reference
  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)
DOI:10.1038/7747
Reference
  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)
DOI:10.1111/j.0303-6987.2005.00267.x
LinkDB All DBs

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