KEGG   DISEASE: Epidermal nevus
Entry
H02627                      Disease                                
Name
Epidermal nevus;
Sebaceous nevus
Description
Epidermal nevus is hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin. It is often present at birth or within the first few years of life.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skin
    Developmental hamartomata of the epidermis and epidermal appendages
     LC00  Keratinocytic epidermal hamartoma
      H02627  Epidermal nevus
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06530  PI3K signaling
   H02627  Epidermal nevus
Pathway
hsa04151 PI3K-Akt signaling pathway   
Network
nt06530 PI3K signaling
Gene
NRAS [HSA:4893] [KO:K07828]
PIK3CA [HSA:5290] [KO:K00922]
FGFR3 [HSA:2261] [KO:K05094]
HRAS [HSA:3265] [KO:K02833]
Other DBs
ICD-11: LC00.0
MeSH: C580062
OMIM: 162900
Reference
PMID:29983155
  Authors
Garcias-Ladaria J, Cuadrado Roson M, Pascual-Lopez M
  Title
Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.
  Journal
Actas Dermosifiliogr (Engl Ed) 109:677-686 (2018)
DOI:10.1016/j.ad.2018.05.005
Reference
PMID:22499344 (NRAS)
  Authors
Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernandez-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX
  Title
Keratinocytic epidermal nevi are associated with mosaic RAS mutations.
  Journal
J Med Genet 49:249-53 (2012)
DOI:10.1136/jmedgenet-2011-100637
Reference
PMID:17673550 (PIK3CA)
  Authors
Hafner C, Lopez-Knowles E, Luis NM, Toll A, Baselga E, Fernandez-Casado A, Hernandez S, Ribe A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX
  Title
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.
  Journal
Proc Natl Acad Sci U S A 104:13450-4 (2007)
DOI:10.1073/pnas.0705218104
Reference
PMID:16841094 (FGFR3)
  Authors
Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A
  Title
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.
  Journal
J Clin Invest 116:2201-2207 (2006)
DOI:10.1172/JCI28163
Reference
PMID:22087699 (HRAS)
  Authors
Hafner C, Toll A, Real FX
  Title
HRAS mutation mosaicism causing urothelial cancer and epidermal nevus.
  Journal
N Engl J Med 365:1940-2 (2011)
DOI:10.1056/NEJMc1109381
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