Hereditary Epidermolysis bullosa junctionalis in an American Saddlebred foal from Germany

作者：Hierlmeier Barbara; Peters Martin; Bienert Zeit Astrid; Hewicker Trautwein Marion; Kappler Lisa; Wohlsein Peter^*

来源：Pferdeheilkunde, 2013, 29(5): 621-627.

DOI：10.21836/pem20130507

• horse
• Epidermolysis bullosa junctionalis
• Laminin 5
• blistering skin disease
• Epitheliogenesis imperfecta

In America Epidermolysis bullosa junctionalis (EBJ) is known as an autosomal recessive genetic disorder in the American Saddelbred (AS) population since 1975. This article describes the first documented case of EBJ in an AS horse in Germany. Samples of a neonatal female AS foal were investigated pathomorphologically, radiologically, electron microscopically and genetically. The animal showed complete absence of epidermal structures at mechanically exposed locations and of parts of oral mucus membranes and anogenital region. Deciduous teeth displayed enamel hypoplasia. Cleft formation in the skin was localized at the dermo-epidermal junction within the lamina lucida of the basement membrane. Genotyping revealed the animal as homozygous for the LAMA3 defect. Since EBJ occurs in AS horses also in Germany, a genetic investigation prior to licensing of AS stallions should be performed to exclude asymptomatic heterozygous individuals from breeding.

• 出版日期2013-10