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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
4 associated genes
8 signs/symptoms
Superficial epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma

KRT2 KRT1
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT2
(0.49)
KRT1



Citations in the biomedical literature:


Superficial epidermolytic ichthyosis
KRT2
Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9



Superficial epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma

Synonym(s):
- Ichthyosis bullosa of Siemens
- SEI

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

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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D053560
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Palmoplantar hyperkeratosis / keratoderma


Superficial epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma

Very frequent
- Cutaneous edema
- Ichthyosis / ichthyosiform dermatitis
- Positive Nikolski's sign / achantolysis
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Very frequent
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating