Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

General Information (adopted from Orphanet):

Synonyms, Signs: EBS, GENERALIZED
epidermolysis bullosa simplex, koebner type
Epidermolysis bullosa simplex, Köbner type
Generalized EBS, non-Dowling-Meara type
Number of Symptoms 26
OrphanetNr: 79399
OMIM Id: 131900
ICD-10: Q81.0
UMLs: C0079299
MeSH: C535961
MedDRA:
Snomed: 90496008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
2
(HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
3
(HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
4
(HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
5
(HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
6
(HPO:0003473) Fatigable weakness Occasional [Orphanet] 39 / 7739
7
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
8
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
9
(HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
10
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
11
(HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
12
(HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
13
(HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
14
(HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
15
(HPO:0001056) Milia rare [HPO:skoehler] 24 / 7739
16
(HPO:0008066) Abnormal blistering of the skin 20 / 7739
17
(HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
18
(HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
19
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
20
(OMIM) Oral blistering 3 / 7739
21
(OMIM) Blistering, generalized, recurrent (occurs after mild physical trauma) 1 / 7739
22
(OMIM) Lack of scarring 1 / 7739
23
(OMIM) No clumping of keratin filaments in basal epidermal cells 1 / 7739
24
(HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
25
(OMIM) Cleavage within basal keratinocytes 4 / 7739
26
(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 (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. ...
Clinical Description OMIM Passarge (1965) observed 21 affected persons in 4 generations of a family with generalized epidermolysis bullosa simplex. The inheritance pattern was autosomal dominant.

Hacham-Zadeh et al. (1988) described a large Arab family originating from Jerusalem in ...

Genotype-Phenotype Correlations OMIM Livingston et al. (2001) reported a patient who presented at 3 to 4 days of age with widespread generalized blistering. Painful hyperkeratosis of the palms and soles developed in his teen years, whereas blistering improved somewhat with age. ...
Molecular genetics OMIM In a family with the generalized form of epidermolysis bullosa simplex, Bonifas et al. (1991) found linkage to markers on chromosome 17 and identified a point mutation in the KRT14 gene (L384P; 148066.0001).

In affected members ...