OMIA 002082-89462 : Epidermolysis bullosa, simplex in Bubalus bubalis

In other species: dog , cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131900 , 131800 , 226670 , 131760 , 601001

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Inheritance: Riet-Correa et al. (1994): "The disease appears to be inherited as an autosomal recessive trait."

Clinical features: Riet-Correa et al. (1994): "A skin disease characterized by trauma-induced sloughing of haired skin, hooves, and horns is described in four calves from a herd of Murrah buffaloes (Bubalus bubalis) in Brazil. Affected calves were detected shortly after birth by the presence of lesions affecting the distal extremities, the scapular and gluteal regions, and the tip of the tail."

Pathology: Riet-Correa et al. (1994): "On histologic evaluation of affected skin, the lesions were characterized by suprabasilar vesicles and acantholysis affecting the epidermis and outer root sheath of the hair follicle infundibulum. The basal cell layer was intact and appeared as a single layer of cuboidal cells attached to the dermis. Ultrastructurally, the region between the stratum basale and the lower stratum spinosum had widened intercellular spaces with loss of desmosomal attachments, which led to the suprabasilar separation."

Reference


1994 Rietcorrea, F., Barros, S.S., Dame, M.C., Peixoto, P.V. :
Hereditary suprabasilar acantholytic mechanobullous dermatosis in buffaloes (Bubalus bubalis) Veterinary Pathology 31:450-454, 1994. Pubmed reference: 7941234.

Edit History


  • Created by Frank Nicholas on 16 Jul 2020
  • Changed by Frank Nicholas on 16 Jul 2020