Epidermolysis bullosa simplex, Dowling-Meara type

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
EBS-DM
Epidermolysis bullosa simplex, herpetiformis
Number of Symptoms 34
OrphanetNr: 79396
OMIM Id: 131760
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: 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:0011830) Abnormality of oral mucosa Occasional [Orphanet] 47 / 7739
2
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
3
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
4
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
5
 (HPO:0001510) Growth delay 295 / 7739
6
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
7
 (HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
8
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
9
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
10
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
11
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
12
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
13
 (HPO:0001056) Milia 24 / 7739
14
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
15
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
16
 (HPO:0001075) Atrophic scars Rare [HPO:skoehler] 15 / 7739
17
 (HPO:0002164) Nail dysplasia 82 / 7739
18
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
19
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
20
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
21
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
22
 (HPO:0008404) Nail dystrophy 89 / 7739
23
 (OMIM) Oral blistering 3 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
26
 (OMIM) Blistering occurs in clusters ('herpetiform', 'arcuate') 1 / 7739
27
 (OMIM) Nail shedding 1 / 7739
28
 (OMIM) Blistering of hands, elbows, feet, knees 1 / 7739
29
 (HPO:0003623) Neonatal onset 22 / 7739
30
 (OMIM) Atrophic scarring 9 / 7739
31
 (OMIM) Cleavage within basal keratinocytes 4 / 7739
32
 (OMIM) Blistering, generalized, recurrent, severe (occurs after mild physical trauma) 1 / 7739
33
 (OMIM) Clumping of keratin filaments in basal epidermal cells 1 / 7739
34
 (OMIM) Hemorrhagic blisters 1 / 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. ...
Diagnosis OMIM - Prenatal Diagnosis

Holbrook et al. (1992) made a diagnosis of this disorder by in utero fetal skin biopsy. Two earlier-born sibs had been affected. The mother, who had been thought to be normal, was found ...
Clinical Description OMIM Dowling and Meara (1954) first described a form of epidermolysis bullosa simplex that resembled dermatitis herpetiformis (601230). Onset of generalized bullae in a herpetiform (arciform) arrangement occurred during the first 3 months of life. Serous and hemorrhagic blisters ...
Genotype-Phenotype Correlations OMIM Letai et al. (1993) reported that clinical severity of EBS and epidermolytic hyperkeratosis (EHK; 113800) is related to the location of point mutations within the keratin polypeptides and the degree to which these mutations perturb keratin intermediate filament ...
Molecular genetics OMIM In a large family with Dowling-Meara EBS, Lane et al. (1992) identified a heterozygous mutation in the KRT5 gene (E475G; 148040.0001) that segregated with the disorder in an autosomal dominant pattern.

In affected members of a ...