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Superficial epidermolytic ichthyosis
1 OMIM reference -
1 associated gene
21 connected diseases
8 signs/symptoms
Disease Type of connection
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Fibronectin glomerulopathy
Spinocerebellar ataxia type 12
Cabezas syndrome
Dedifferentiated liposarcoma
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Pseudohypoaldosteronism type 2E
Richieri Costa-Pereira syndrome
Senior-Loken syndrome
Well-differentiated liposarcoma
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Congenital reticular ichthyosiform erythroderma
Epidermolytic palmoplantar keratoderma
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Synonym(s):
- Ichthyosis bullosa of Siemens
- SEI
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
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
External references:
1 OMIM reference -
1 MeSH reference: D053560
Gene symbol UniProt reference OMIM reference
KRT2 P35908600194
Very frequent
- Autosomal dominant inheritance
- Cutaneous edema
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma
- Positive Nikolski's sign / achantolysis
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Erythema / erythematous lesions / erythroderma / polymorphous erythema