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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79401
Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.
Prevalence is unknown and EBS-O has been reported in only two families (121 and 3 affected members, respectively) so far.
Onset is usually at birth. Patients have easy bruisability, hemorrhagic blistering, and marked nail deformity (onychogryphosis).
EBS-O is due to a specific missense mutation in the PLEC gene (8q24) encoding plectin.
Transmission is autosomal dominant.
Although the disease can be severely disabling, life-expectancy is normal.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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