| H00947 | |
| H number | H00947 |
| 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 | Neoplasm |
| Network | - |
| Gene | CTNNB1 [HSA:1499] [KO:K02105] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 2F22 ICD-10: D23 MeSH: D018296 OMIM: 132600 |
| Reference | PMID:11708952 AUTHORS Tsao H. TITLE Genetics of nonmelanoma skin cancer. JOURNAL Arch Dermatol 137:1486-92 (2001) DOI:10.1001/archderm.137.11.1486 PMID:10192393 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 PMID:15606674 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 |