Epidermolytic ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: EHK
BCIE
EI
Bullous congenital ichthyosiform erythroderma
Epidermolytic hyperkeratosis
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
Number of Symptoms 13
OrphanetNr: 312
OMIM Id: 113800
607602
ICD-10: Q80.3
UMLs: C0079153
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Keratinopathic ichthyosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100780) Conjunctival hamartoma Occasional [Orphanet] 4 / 7739
2
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
3
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
4
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
5
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
6
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
7
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
8
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
9
 (HPO:0001019) Erythroderma 24 / 7739
10
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
11
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
12
 (HPO:0040189) Scaling skin 6 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: