Epidermolysis bullosa simplex

General Information (adopted from Orphanet):

Synonyms, Signs: EBS
Number of Symptoms 11
OrphanetNr: 304
ICD-10: Q81.0

Prevalence, inheritance and age of onset:

Prevalence: 2.4 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Age of onset: Neonatal

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited epidermolysis bullosa
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

(HPO:0002021) Pyloric stenosis Frequent [Orphanet] 51 / 7739
(HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
(HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
(HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
(HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
(HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
(HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
(HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
(HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
(HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis GeneReviews The diagnosis of epidermolysis bullosa simplex (EBS) is suspected in individuals with fragility of the skin manifested by blistering with little or no trauma. The blisters typically heal without scarring. Although examination of a skin biopsy is often required to establish the diagnosis, it may not be necessary in some individuals, especially those with a known family history or characteristic phenotype (i.e., blisters on the palms and soles only)....
Clinical Description GeneReviews The most common forms of epidermolysis bullosa simplex (EBS) are subdivided into clinical phenotypes — EBS, localized (EBS-loc) (previously known as EBS, Weber-Cockayne type); EBS, generalized (EBS-gen-nonDM) (previously known as EBS, Koebner type); EBS Dowling-Meara (EBS-DM); and EBS-with mottled pigmentation (EBS-MP) — based primarily on dermatologic and histopathologic findings. Although it is now recognized that these phenotypes are part of a continuum with overlapping features, it is reasonable to continue to think of EBS in terms of the phenotypes in order to provide affected individuals with information about the expected clinical course. The clinical features of these disorders are summarized in Table 2....
Genotype-Phenotype Correlations GeneReviews A moderate correlation exists between the EBS phenotypes and the functional domain of either KRT5 or KRT14 in which the mutation is located [reviewed in Irvine & McLean 2003, Müller et al 2006]:...
Differential Diagnosis GeneReviews According to the current classification system, the four major types of epidermolysis bullosa (EB), caused by mutations in 14 different genes, are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome [Fine et al 2008]. Classification into major type is based on the location of blistering in relation to the dermal-epidermal junction of skin. Subtypes are predominantly determined by clinical features and supported by molecular diagnosis. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with epidermolysis bullosa simplex (EBS), evaluation of the sites of blister formation, including oral mucosa, is recommended....
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....