Epidermolytic palmoplantar keratoderma

General Information (adopted from Orphanet):

Synonyms, Signs: KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR
HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC
KERATOSIS PALMARIS ET PLANTARIS FAMILIARIS
KERATOSIS OF GREITHER PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED
TYLOSIS
PALMOPLANTAR KERATODERMA, VORNER TYPE
EPPK
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Epidermolytic palmoplantar keratoderma of Voerner
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Epidermolytic palmoplantar keratoderma of Vörner
Number of Symptoms 21
OrphanetNr: 2199
OMIM Id: 144200
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
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:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
2
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
3
(HPO:0007447) Diffuse palmoplantar hyperkeratosis 8 / 7739
4
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
5
(HPO:0007559) Localized epidermolytic hyperkeratosis 1 / 7739
6
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
7
(HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
8
(HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
9
(HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
10
(HPO:0003212) Increased IgE level 13 / 7739
11
(OMIM) Cytolysis of keratinocytes in spinous and granular layers 1 / 7739
12
(OMIM) in some patients) 2 / 7739
13
(OMIM) Thickened granular layer of epidermis 1 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Perinuclear vacuolization of keratinocytes 1 / 7739
16
(OMIM) Large irregularly shaped keratohyalin granules 1 / 7739
17
(OMIM) Palmoplantar epidermolytic hyperkeratosis along Blaschko lines (rare) 1 / 7739
18
(OMIM) Thick, waxy skin of palms and soles with well-defined erythematous border 1 / 7739
19
(HPO:0012740) Papilloma Very frequent [Orphanet] 17 / 7739
20
(OMIM) Hyperkeratosis on dorsal surface of fingers and toes (knuckle pads 1 / 7739
21
(OMIM) Aggregated tonofilaments at cell surface 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern ...
Clinical Description OMIM Localized epidermolytic hyperkeratosis was first described by Vorner (1901). Blasik et al. (1981), Fritsch et al. (1978), and Camisa and Williams (1985) reported affected families. In an affected father and daughter, Moriwaki et al. (1988) noted a decrease ...
Genotype-Phenotype Correlations OMIM Both epidermolytic and nonepidermolytic forms of palmoplantar keratoderma have been observed with various mutations in the KRT1 gene (139350). Kimonis et al. (1994) suggested that the specific region of the keratin protein affected by mutation might be a ...
Molecular genetics OMIM In 5 unrelated German pedigrees with epidermolytic PPK, including the family originally described by Thost (1880) and the family previously studied by Reis et al. (1992) with linkage to chromosome 17q11-q23, Reis et al. (1994) identified heterozygosity for ...
Population genetics OMIM Covello et al. (1998) found the point prevalence of EPPK in Northern Ireland to be 4.4 per 100,000.