EPIDERMOLYTIC HYPERKERATOSIS

General Information (adopted from Orphanet):

Synonyms, Signs: BULLOUS ICHTHYOSIFORM ERYTHRODERMA
BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
EPIDERMOLYTIC ICHTHYOSIS EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED
EHK
BIE
BCIE
Number of Symptoms 10
OrphanetNr:
OMIM Id: 113800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
2
(HPO:0001019) Erythroderma 24 / 7739
3
(HPO:0000958) Dry skin 152 / 7739
4
(OMIM) Vacuolation of stratum granulosum 1 / 7739
5
(OMIM) Acanthotic epidermis 1 / 7739
6
(OMIM) Warty thickening of flexural skin 1 / 7739
7
(OMIM) Skin blistering 1 / 7739
8
(OMIM) Tonofilament aggregation in suprabasal keratinocytes 1 / 7739
9
(OMIM) Keratin clumping in suprabasal epidermal layers 1 / 7739
10
(OMIM) Hyperkeratosis of stratum corneum 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of ...
Clinical Description OMIM Clinically, BCIE presents at birth or soon afterwards with widespread erythroderma, blistering, and scaling. Blistering tends to improve with age. Warty thickening of the flexural skin usually appears by the third or fourth year and persists into adult ...
Molecular genetics OMIM In a mother and son with epidermolytic hyperkeratosis, Rothnagel et al. (1992) identified heterozygosity for a missense mutation in the KRT1 gene (E310Q; 139350.0001). In another mother/son pair and an unrelated 17-year-old male with EHK, the authors identified ...