Annular epidermolytic ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYTIC ICHTHYOSIS, ANNULAR
AEI
CIEHK
Number of Symptoms 16
OrphanetNr: 281139
OMIM Id: 607602
ICD-10: Q80.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
2
 (HPO:0010783) Erythema 138 / 7739
3
 (HPO:0007475) Congenital bullous ichthyosiform erythroderma 4 / 7739
4
 (OMIM) Epidermal spongiosis 2 / 7739
5
 (OMIM) Normal 14 / 7739
6
 (OMIM) Migratory plaques of thickened, sharply demarcated erythema and hyperkeratosis 1 / 7739
7
 (OMIM) Ichthyosis of scalp and flexural areas 1 / 7739
8
 (OMIM) Erythema, blisters, pustules (cyclical, explosive episodes) 1 / 7739
9
 (OMIM) Intraepidermal vesicles 1 / 7739
10
 (OMIM) Superficial and deep perivascular infiltrates in the dermis 1 / 7739
11
 (OMIM) Dense whorls of keratin filaments in the lower and middle spinous layers 1 / 7739
12
 (OMIM) Circumscribed clumps of keratin filaments (some associated with desmosomes) 1 / 7739
13
 (OMIM) Eosinophils and neutrophils in the epidermis 1 / 7739
14
 (OMIM) Cytolysis 1 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Neonatal blisters and erosions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sybert et al. (1999) described 4 individuals from 2 families with a unique clinical disorder with histologic findings of epidermolytic hyperkeratosis, a hallmark feature of bullous congenital ichthyosiform erythroderma (113800) on light and electron microscopy. Affected individuals manifested ...
Molecular genetics OMIM In the proband of one family affected with cyclic ichthyosis with epidermolytic hyperkeratosis, Sybert et al. (1999) found a 1436T-C transition mutation in the keratin 1 gene that predicted an amino acid change from isoleucine to threonine at ...