Localized epidermolysis bullosa simplex

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
EBS, ACRAL FORM
Epidermolysis bullosa simplex of palms and soles
epidermolysis bullosa simplex, weber-cockayne type
EBS-loc
Number of Symptoms 11
OrphanetNr: 79400
OMIM Id: 131800
ICD-10: Q81.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Basal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
2
(HPO:0007446) Palmoplantar blistering 2 / 7739
3
(HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
4
(HPO:0000962) Hyperkeratosis rare [HPO:skoehler] 216 / 7739
5
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
6
(HPO:0001056) Milia rare [HPO:skoehler] 24 / 7739
7
(OMIM) Atrophic scarring 9 / 7739
8
(OMIM) Blistering, recurrent, of the palms and soles 1 / 7739
9
(OMIM) Cleavage within basal keratinocytes 4 / 7739
10
(OMIM) Hyperkeratosis, focal, on the palms and soles (in adulthood in some) 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The ...
Clinical Description OMIM Readett (1961) described a family in which 14 members in 5 generations had localized epidermolysis bullosa of the hands and feet inherited in an autosomal dominant pattern. Treatment with adrenosteroid depressed bulla formation, but recurrence occurred with the ...
Molecular genetics OMIM In affected members of 2 unrelated families with Weber-Cockayne EBS, Chan et al. (1993) identified a heterozygous mutation in the K5 gene (I161S; 148040.0003). Ehrlich et al. (1995) identified the I161S mutation in 6 of 13 cases of ...