KEGG   DISEASE: Multiple familial trichoepithelioma
Entry
H00829                      Disease                                
Name
Multiple familial trichoepithelioma
Description
Multiple familial trichoepithelioma (MFT) is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal dominant fashion and is related to Brooke-Spiegler syndrome and Familial cylindromatosis.
Category
Neoplasm
Brite
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
      H00829  Multiple familial trichoepithelioma
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06527  Necroptosis
   H00829  Multiple familial trichoepithelioma
Pathway
hsa04064  NF-kappa B signaling pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04217  Necroptosis
hsa04625  C-type lectin receptor signaling pathway
hsa04380  Osteoclast differentiation
Network
nt06527 Necroptosis
Gene
CYLD [HSA:1540] [KO:K08601]
Other DBs
ICD-11: 2F22
ICD-10: D23.3
MeSH: C536552
OMIM: 601606
Reference
  Authors
Oranje AP, Halley D, den Hollander JC, Teepe RG, van de Graaf R, van den Ouweland A, Wagner A
  Title
Multiple familial trichoepithelioma and familial cylindroma: one cause!
  Journal
J Eur Acad Dermatol Venereol 22:1395-6 (2008)
DOI:10.1111/j.1468-3083.2008.02648.x
Reference
PMID:21389835 (CYLD)
  Authors
Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangueza M, Emberger M, Belousova I, Fernandez-Figueraz MT, Kempf W, Meyer DR, Rutten A, Baltaci M, Michal M
  Title
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
  Journal
Am J Dermatopathol 33:251-65 (2011)
DOI:10.1097/DAD.0b013e3181f7d373
LinkDB

» Japanese version

DBGET integrated database retrieval system