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Nyfødt med aplasia cutis forårsaget af epidermolysis bullosa

Forfatter(e)
Christine Cramer1, Bjørn Bay2, Anne-Bine Skytte3, Kathrine Falk Lauritsen3 & Mette Sommerlund4 1) Anæstesiologisk Afdeling, Aarhus
Universitetshospital2) Fertilitetsklinikken, Gynækologisk og Obstetrisk Afdeling, Regionshospitalet Horsens3) Klinisk Genetisk Afdeling, Aarhus
Universitetshospital4) Dermato-venerologisk Afdeling, Aarhus
Universitetshospital

Ugeskr Læger 2018;180:V11170891
Reference: 
Ugeskr Læger 2018;180:V11170891
Sidetal: 

Christine Cramer, Bjørn Bay, Anne-Bine Skytte,
Kathrine Falk Lauritsen & Mette Sommerlund:

Newborn with aplasia cutis caused by epidermolysis bullosa

Ugeskr Læger 2018;180:V11170891

Epidermiolysis bullosa (EB) is a rare group of genetic disorders, which are characterised by bullae and erosions on skin and mucosa. This case report describes a patient, who was born at full term without any complications. Both crurae were affected by aplasia cutis. Upon birth, the newborn was wrapped in a soft blanket, and prophylactic antibiotic treatment was started along with analgesics. Large bullae were punctured with a sterile needle, and erosions were treated with non-adherent wound dressings and special bandages. Gloves and shoes were custom-made. Autosomal recessive DEB was genetically confirmed, and the child was followed regularly by an EB-team.

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