In other species: dog , domestic cat , taurine cattle , sheep

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131705 (trait) , 131750 (trait) , 131950 (trait) , 132000 (trait) , 226500 (trait) , 226600 (trait)

Single-gene trait/disorder: unknown

Mode of inheritance: Autosomal recessive

Disease-related: yes

Cross-species summary: Blisters on the outer layer of skin.

Inheritance: Pedigree analysis of test crosses suggested an autosomal recessive mode of inheritance in Anglo-Nubian goats (Medeiros et al., 2013).

Clinical features: Medeiros et al. (2013): "The [affected Anglo-Nubian] goats presented with exungulation, erosions, crusts and scars on the skin and ulcers in the oral cavity."
Ossowski et al. (2026) report a "male [Thuringian Forest] goat kid of around three weeks of age was detected with skin lesions, particularly on the distal limbs, chest and ears. These skin lesions were characterized by alopecia, pus-filled blisters, incrustations and erosions. ...  The goat kid ... had to be euthanized despite intensive treatment due to increasing deterioration ... ."

Pathology: Medeiros et al. (2013): "Microscopically, the skin [of affected affected Anglo-Nubian goats] showed subepidermal separation with clefts filled occasionally with clear eosinophilic fluid, cellular debris or neutrophils. Ultrastructurally, the site of blister formation was the sublamina densa in the epidermal basement membrane zone. In skin with blister formation and in clinically uninvolved skin, the basal lamina was preserved, but the anchoring fibrils were sparse and rudimentary."
Ossowski et al. (2026): "Histologic investigation of the altered areas of skin and mucosa [from the affected Thuringian Forest goat] revealed a separation of epithelium from the underlying dermis and/or lamina propria at the level below the basement membrane. Transmission electron microscopy confirmed the localization of the subepidermal cleft formation, leading to the diagnosis of epidermolysis bullosa dystrophica (EBD)."

Breeds: Anglo-Nubian (Goat) (VBO_0000722), Thüringer Wald Ziege, Germany (Goat) (VBO_0009497).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).