Non-epidermolytic palmoplantar keratoderma

General Information (adopted from Orphanet):

Synonyms, Signs: NEPPK
PPKB
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
Number of Symptoms 8
OrphanetNr: 2337
OMIM Id: 600231
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant isolated diffuse palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0200037) Skin vesicle Frequent [Orphanet] 102 / 7739
2
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
3
(HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
4
(HPO:0007435) Diffuse palmoplantar keratoderma 1 / 7739
5
(HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
6
(HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
7
(HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 ...
Clinical Description OMIM Lind et al. (1994) described 2 large Swedish families segregating a diffuse nonepidermolytic form of PPK. Affected family members presented a homogeneous PPK ranging from barely detectable to prominent, with the affected skin often showing a yellowish tint. ...
Molecular genetics OMIM Using linkage data in combination with exome sequencing followed by Sanger sequencing in families segregating autosomal dominant diffuse nonepidermolytic PPK, Blaydon et al. (2013) identified heterozygosity for 5 different missense mutations in the AQP5 gene (600442.0001-600442.0005) in affected ...