Preferred Label : Acantholytic epidermolysis bullosa;
ICD-11 definition : A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to
mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal
cohesion. It normally leads to premature death in the neonatal period.;
ICD-11 synonym : LAEB; LAEB - [lethal acantholytic epidermolysis bullosa] due to desmoplakin deficiency (MIM
609638); LAEB - [lethal acantholytic epidermolysis bullosa] due to desmoplakin deficiency; Lethal acantholytic epidermolysis bullosa; EBS-acanth; LAEB due to desmoplakin deficiency;
Origin ID : 2082436712;
Automatic exact mappings (from CISMeF team)
A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to
mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal
cohesion. It normally leads to premature death in the neonatal period.
