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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
6 signs/symptoms
Epidermolytic palmoplantar keratoderma
Keratoderma hereditarium mutilans with ichthyosis

KRT1 LOR
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT1
(0.75)
LOR



Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
Keratoderma hereditarium mutilans with ichthyosis
LOR



Epidermolytic palmoplantar keratoderma
Keratoderma hereditarium mutilans with ichthyosis

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):
- Camisa disease
- Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
- Loricrin keratoderma
- Vohwinkel syndrome - ichthyosis

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:
(no data available)

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


COMMON
SIGNS
- Palmoplantar hyperkeratosis / keratoderma


Epidermolytic palmoplantar keratoderma
Keratoderma hereditarium mutilans with ichthyosis

Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating



Very frequent
- Ichthyosis / ichthyosiform dermatitis

Occasional
- Auto-aggressivity / auto-mutilation
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Nails anomalies