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1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Epidermolytic palmoplantar keratoderma
Epidermolysis bullosa simplex with circinate migratory erythema

KRT1 KRT5
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT1
(0.52)
KRT5



Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
Epidermolysis bullosa simplex with circinate migratory erythema
KRT5



Epidermolytic palmoplantar keratoderma
Epidermolysis bullosa simplex with circinate migratory erythema

Synonym(s):
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- EPPK
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner

Synonym(s):
- EBS-migr

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Erythema / erythematous lesions / erythroderma / polymorphous erythema


Epidermolytic palmoplantar keratoderma
Epidermolysis bullosa simplex with circinate migratory erythema

Very frequent
- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating



Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Cutaneous rash
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment