Epidermolysis bullosa simplex "ognaQ81.0

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 06.01.2022

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Synonym(s)

Epidermolysis bullosa hereditaria simplex; Epidermolysis bullosa simplex; Epidermolysis bullosa simplex Type Ogna; Ogna type; OMIM:131950; Type Ogna

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HistoryThis section has been translated automatically.

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.

DefinitionThis section has been translated automatically.

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.

EtiopathogenesisThis section has been translated automatically.

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

ManifestationThis section has been translated automatically.

In childhood, often after the age of 5.

LocalizationThis section has been translated automatically.

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

Clinical featuresThis section has been translated automatically.

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.

HistologyThis section has been translated automatically.

Electron microscopy: Blistering originating from the basal cells, above the hemidesmosomes. Reduced insertion of keratin filaments in the hemidesmosomes. Morphologically altered attachment plates on the hemidesmosomes.

Differential diagnosisThis section has been translated automatically.

Epidermolysis bullosa group

TherapyThis section has been translated automatically.

No specific therapy known. Externally symptomatic see below Epidermolysis bullosa group.

LiteratureThis section has been translated automatically.

  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.

Authors

Last updated on: 06.01.2022

Author: Prof. Dr. med. Peter Altmeyer