Familial Acantholysis of Angus Calves

Jolly, R. D.; Alley, M.R.; O'Hara, P. J.

doi:10.1177/030098587301000601

Cited by 26 publications

(14 citation statements)

References 8 publications

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“…As reported in humans, healing in goats with DEB led to changes in the architecture of some of the anatomical structures of the oral mucosa, including the palatal rugae and tongue papillae, which may reduce in length or disappear after healing, leaving a flat surface (Figure a). This finding is not observed in ruminants with EBS or JEB (Figure b) . Ulcers in the oesophagus, vulva and cornea are described.…”

Section: Dystrophic Epidermolysis Bullosamentioning

confidence: 78%

“…Periodic acid Schiff staining of histological skin sections from calves demonstrated cleft formation involving the epidermis, with the basement membrane attached to the floor of the cleft . An apparent loss of the intercellular junction and acantholysis are observed in EBS with suprabasal separation (Figure a) . Detachment of the corneal epithelium with minimal inflammation was observed in cattle …”

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 96%

“…The signs tend to be less severe than in JEB and DEB (Figure ). Dystrophic or absent nails are frequently seen in human patients, and this corresponds to the deformities and sloughing of the hooves in buffalo (Figure c) and cattle and to dystrophic or atrophic claws in dogs . Multifocal ulcers on the gums, hard and soft palates, mucosa of the lips, buccal mucosa and dorsum of the tongue are observed in cattle with cytolytic basal layer separation and dogs with noncytolytic suprabasal separation .…”

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 98%

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Epidermolysis bullosa in animals: a review

Medeiros

Riet-Correa

2014

Veterinary Dermatology

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Epidermolysis bullosa (EB) is a hereditary mechanobullous disease of animals and humans, characterized by an extreme fragility of the skin and mucous membranes. The main feature of EB in humans and animals is the formation of blisters and erosions in response to minor mechanical trauma. Epidermolysis bullosa is caused by mutations in the genes that code for structural proteins of the cytoskeleton of the basal keratinocytes or of the basement membrane zone. Based on the ultrastructural levels of tissue separation, EB is divided into the following three broad categories: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. Human types of EB are divided into several subtypes based on their ultrastructural changes and the mode of inheritance; subtypes are not fully established in animals. In humans, it is estimated that EB affects one in 17,000 live births; the frequency of EB in different animals species is not known. In all animal species, except in buffalo with epidermolysis bullosa simplex, multifocal ulcers are observed on the gums, hard and soft palates, mucosa of the lips, cheek mucosa and dorsum of the tongue. Dystrophic or absent nails, a frequent sign seen in human patients with EB, corresponds to the deformities and sloughing of the hooves in ungulates and to dystrophy or atrophy of the claws in dogs and cats. This review covers aspects of the molecular biology, diagnosis, classification, clinical signs and pathology of EB reported in animals.

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Section: Dystrophic Epidermolysis Bullosamentioning

confidence: 78%

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 96%

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 98%

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Epidermolysis bullosa in animals: a review

Medeiros

Riet-Correa

2014

Veterinary Dermatology

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“…A disease similar to human acantholytic EB has so far been described only in cattle: the so-called “familial acantholysis” was first reported in Angus calves nearly 30 years ago [13], while “hereditary suprabasal acantholytic mechanobullous dermatosis” was seen more recently in Brazilian Murrah buffaloes [14]. A third occurrence of a similar phenotype was described briefly in Texas Brangus calves (cited in [15]).…”

Section: Introductionmentioning

confidence: 99%

Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

et al. 2012

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In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis) are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial epidermal layers sloughing upon pressure. At three month of age, dogs exhibited recurrent superficial skin sloughing and erosions at areas of friction and mucocutaneous junctions; their coat was also finer than normal and there were patches of partial hair loss. At birth, histopathology revealed severe suprabasal acantholysis, which became less severe with ageing. Electron microscopy demonstrated a reduced number of partially formed desmosomes with detached and aggregated keratin intermediate filaments. Immunostaining for desmosomal adhesion molecules revealed a complete lack of staining for plakophilin-1 and anomalies in the distribution of desmoplakin and keratins 10 and 14. Sequencing revealed a homozygous splice donor site mutation within the first intron of PKP1 resulting in a premature stop codon, thereby explaining the inability to detect plakophilin-1 in the skin. Altogether, the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency. This is the first occurrence of ectodermal dysplasia-skin fragility syndrome in an animal species. Controlled mating of carrier dogs would yield puppies that could, in theory, be tested for gene therapy of this rare but severe skin disease of children.

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“…Two subtypes have been recorded in cattle (1,6) while only one type has been described in sheep, horse, and dog, respectively (7). In addition, another hereditary bullous disease, familial acantholysis has been reported in calves (3). However, the pathogenesis of that disease differs from the EB group.…”

Section: Introductionmentioning

confidence: 99%

Congenital generalized epidermolysis bullosa in a calf

Agerholm¹

1994

Journal of Veterinary Medicine Series A

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Summary Epidermolysis bullosa is reported in a newborn calf. The disorder was lethal due to the large extension and severity of the skin lesions. Histopathologically, the defect was characterized by suprabasilar clefts located in stratum spinosum. In large areas, most epidermal layers were lost exposing stratum basale or even dermis. The basal membrane seemed normal. The disorder shared features with previous reported cases of both epidermolysis bullosa and familial acantholysis. The aetiology was not determined.

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Familial Acantholysis of Angus Calves

Cited by 26 publications

References 8 publications

Epidermolysis bullosa in animals: a review

Epidermolysis bullosa in animals: a review

Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

Congenital generalized epidermolysis bullosa in a calf

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