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 or developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00723  Non-epidermolytic palmoplantar keratoderma
Gene
(NEPPK) KRT1 [HSA:3848] [KO:K07605]
(PPKNEFD) KRT6C [HSA:286887] [KO:K07605]
Other DBs
ICD-11: EC20.30
MeSH: C563422
OMIM: 600962 615735
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:10536965 (NEPPK)
  Authors
Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MH, Leigh IM
  Title
Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.
  Journal
Exp Dermatol 8:388-91 (1999)
DOI:10.1111/j.1600-0625.1999.tb00387.x
Reference
PMID:21801157 (PPKNEFD)
  Authors
Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D
  Title
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.
  Journal
Br J Dermatol 165:1290-2 (2011)
DOI:10.1111/j.1365-2133.2011.10552.x
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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