Epidermolysis bullosa simplex superficialis

General Information (adopted from Orphanet):

Synonyms, Signs: EBSS
Number of Symptoms 5
OrphanetNr: 89839
OMIM Id: 607600
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: Suprabasal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
2
(HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
3
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
4
(HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
5
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fine et al. (1989) reported a large 5-generation kindred in which several members had a disorder consistent with autosomal dominant epidermolysis bullosa simplex (EBS). Clinical features included blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement. ...