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Keratoderma hereditarium mutilans with ichthyosis
1 OMIM reference -
1 associated gene
8 connected diseases
6 signs/symptoms
Disease Type of connection
Progressive symmetric erythrokeratodermia
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Exfoliative ichthyosis
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Pulverulent cataract
Synonym(s):
- Camisa disease
- Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
- Loricrin keratoderma
- Vohwinkel syndrome - ichthyosis

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

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

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
LOR P23490152445
Very frequent
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma

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