Epidermolysis bullosa simplex "ogna Q81.0

This form of EBS was found by Gedde-Dahl (1971) in a large Norwegian family in the town of Ogna. It was distinguished from generalized epidermolysis bullosa simplex (Koebner type; 131900) and localized EBS (Weber and Cockayne type; 131800) by the presence of hematomas in the Ogna type.

Very rare, autosomal dominant, mainly acral, rarely extensive epidermolysis bullosa type EBS (EBsimplex) with basal epidermolysis and mutation in PLEC1. The disease was named after the place of first description (Ogna, Norway). The course is usually mild, with post-lesional purplish and hypopigmented patches.

Autosomal dominant inheritance of mutations in the plectin1 gene(PLEC1; gene locus: 8q24).

Common on the extremities (acral), less common on the trunk or face.

Acral or disseminated, small hemorrhagic blisters of various sizes, which usually heal without scars and lead to increased skin fragility of the affected areas. Seasonal vulnerability of the entire integument. Strong tendency to pressure sores on the entire integument. Frequent subcorneal haemorrhages and onychogryposis of the big toenails.

1. Gedde-Dahl T Jr (1971) Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Johns Hopkins Press (Baltimore)

2. Has C et al (2020) Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Brit J Derm 183: 614-627

3. Koss-Harnes D et al (1997) Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies. Exp Dermatol 6: 41-48

4. Koss-Harnes D et al (2002) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Derm 118: 87-93.