Epidermolysis bullosa simplex, Ogna type
Alternate names
EBS-OG
Definition
Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
Epidemiology
Prevalence is unknown and EBS-O has been reported in only two families (121 and 3 affected members, respectively) so far.
Cause
EBS-O is due to a specific missense mutation in the PLEC gene (8q24) encoding plectin.
Inheritance
Transmission is autosomal dominant.
Signs and symptoms
Onset is usually at birth. Patients have easy bruisability, hemorrhagic blistering, and marked nail deformity (onychogryphosis).
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Bruising susceptibility(Bruise easily)
- Skin erosion
30%-79% of people have these symptoms
- Abnormal blistering of the skin(Blistering, generalized)
- Onychogryposis(Thick nail)
Diagnosis
Treatment
NIH genetic and rare disease info
Epidermolysis bullosa simplex, Ogna type is a rare disease.
Resources
Frequently asked questions
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