KEGG   DISEASE: White sponge nevus
Entry
H00724                      Disease                                
Name
White sponge nevus
Description
White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed in the mucosal non-cornifying stratified epithelia, are associated with the disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases or disorders of orofacial complex
   DA02  Miscellaneous specified disorders of lips or oral mucosa
    H00724  White sponge nevus
Gene
(WSN1) KRT4 [HSA:3851] [KO:K07605]
(WSN2) KRT13 [HSA:3860] [KO:K07604]
Other DBs
ICD-11: DA02.0
MeSH: D053529
OMIM: 193900 615785
Reference
PMID:12688839
  Authors
Smith F
  Title
The molecular genetics of keratin disorders.
  Journal
Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005
Reference
PMID:9028791
  Authors
Corden LD, McLean WH
  Title
Human keratin diseases: hereditary fragility of specific epithelial tissues.
  Journal
Exp Dermatol 5:297-307 (1996)
DOI:10.1111/j.1600-0625.1996.tb00133.x
Reference
PMID:7493030 (KRT4)
  Authors
Rugg EL, McLean WH, Allison WE, Lunny DP, Macleod RI, Felix DH, Lane EB, Munro CS
  Title
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.
  Journal
Nat Genet 11:450-2 (1995)
DOI:10.1038/ng1295-450
Reference
PMID:7493031 (KRT13)
  Authors
Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG
  Title
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.
  Journal
Nat Genet 11:453-5 (1995)
DOI:10.1038/ng1295-453

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Disease (2)   
   OMIM (2)   
All databases (2)   

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