KEGG   DISEASE: Non-epidermolytic palmoplantar keratoderma
Entry
H00723                      Disease                                
Name
Non-epidermolytic palmoplantar keratoderma
  Subgroup
Focal nonepidermolytic palmoplantar keratoderma [DS:H02263]
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Palmoplantar keratoderma, Bothnian type [DS:H02266]
Palmoplantar keratoderma, Nagashima type [DS:H02264]
Mal de Meleda [DS:H00695]
  Supergrp
Palmoplantar keratoderma [DS:H01673]
Description
Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on.
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
    H00723  Non-epidermolytic palmoplantar keratoderma
Gene
(NEPPK) KRT16 [HSA:3868] [KO:K07604]
(PPKNEFD) KRT6C [HSA:286887] [KO:K07605]
Other DBs
ICD-11: EC20.30
ICD-10: Q82.8
MeSH: C563422
OMIM: 600962 613000
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:8595410
  Authors
Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
  Title
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
  Journal
Hum Mol Genet 4:1875-81 (1995)
DOI:10.1093/hmg/4.10.1875
Reference
PMID:26945534
  Authors
Sakiyama T, Kubo A
  Title
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
  Journal
J Dermatol 43:264-74 (2016)
DOI:10.1111/1346-8138.13219

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Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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