KEGG   DISEASE: Epidermolytic palmoplantar keratoderma
Entry
H00722                      Disease                                
Name
Epidermolytic palmoplantar keratoderma
  Supergrp
Palmoplantar keratoderma [DS:H01673]
Description
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00722  Epidermolytic palmoplantar keratoderma
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06545  Cornified envelope formation
   H00722  Epidermolytic palmoplantar keratoderma
Pathway
hsa04382 Cornified envelope formation   
Network
nt06545 Cornified envelope formation
Gene
(EPPK1) KRT9 [HSA:3857] [KO:K07604]
(EPPK2) KRT1 [HSA:3848] [KO:K07605]
Other DBs
ICD-11: EC20.30
MeSH: D053546
OMIM: 144200 620411
Reference
PMID:19341430
  Authors
Braun-Falco M
  Title
Hereditary palmoplantar keratodermas.
  Journal
J Dtsch Dermatol Ges 7:971-84; quiz 984-5 (2009)
DOI:10.1111/j.1610-0387.2009.07058.x
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:15538081
  Authors
Sehgal VN, Sardana K, Sharma S, Raut D
  Title
Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
  Journal
Skinmed 3:323-30; quiz 331-2 (2004)
DOI:10.1111/j.1540-9740.2004.03243.x
Reference
PMID:7512862 (EPPK1)
  Authors
Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schrock E, Royer-Pokora B, Franke WW, Sperling K, et al.
  Title
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
  Journal
Nat Genet 6:174-9 (1994)
DOI:10.1038/ng0294-174
Reference
PMID:11286630 (EPPK2)
  Authors
Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP
  Title
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  Journal
J Invest Dermatol 116:606-9 (2001)
DOI:10.1046/j.1523-1747.2001.13041234.x
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