Congenital generalized epidermolysis bullosa in a calf

Agerholm, Jørgen Steen

doi:10.1111/j.1439-0442.1994.tb00076.x

Cited by 13 publications

(8 citation statements)

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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%

“…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: 98%

Epidermolysis bullosa in animals: a review

Medeiros

Riet-Correa

2014

Veterinary Dermatology

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“…Since no lesions with intact bullae were observed, the condition was designated bovine epidermolysis, but no ultrastructural studies were undertaken to define the site of primary cleavage. EBS was diagnosed on the basis of histological findings in a Simmentalcross Red Holstein calf in Switzerland (Stocker et al, 1995) and a Charolais cross Limousin calf in Denmark (Agerholm, 1994), but no ultrastructural studies were performed in these cases. New Zealand Kiwi-cross calves with EBS had variable cleft formation in the skin at the BMZ (Ford et al, 2005).…”

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confidence: 99%

Epidermolysis Bullosa in Calves in the United Kingdom

Foster¹,

Skuse

Higgins³

et al. 2010

Journal of Comparative Pathology

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SummaryEpidermolysis bullosa (EB) was diagnosed in eight calves from four farms in the United Kingdom on the basis of clinical, histological and ultrastructural findings. In three affected herds, pedigree Simmental bulls had been mated with Simmental-cross cows. In a fourth herd two Holstein-Friesian calves were affected. Lesions included multifocal erosion and ulceration of the hard and soft palates, tongue, nares and gingiva, with onychomadesis (dysungulation). There was alopecia, erosion and crusting of the coronets, pasterns, fetlocks, carpi, hocks, flanks and axillae. Histopathological findings included segmental separation of full thickness epidermis from the dermis, with formation of large clefts containing eosinophilic fluid, extravasated red blood cells and small numbers of neutrophils. Follicular and interfollicular areas of skin were affected, with clefts extending around hair follicles and sometimes involving whole follicles. Ultrastructurally, there was evidence of vacuolar change within basal keratinocytes, corresponding to areas of histological clefting. Preliminary genetic screening of the candidate keratin genes (bKRT5 and bKRT14) has excluded mutations of these as the cause of this condition.Crown

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“…Congenital blistering disorders in the mucous membranes, muzzle and skin, especially the distal part of the limbs, have been reported in cattle through decades and usually referred to as “epitheliogenesis imperfecta” (EI) as proposed by Hadley [ 45 ]. Many of these cases have occurred in familial patterns associated with inbreeding and likely transmission of an autosomal recessive mutant allele from a founder animal [ 44 - 46 ] and many cattle breeds have been affected [ 15 , 45 - 51 ]. However, EI probably comprises of two distinct entities, namely congenital cutaneous aplasia (CCA) and EB and taking the current knowledge on the genetic background and variation even within subtypes of EB in man into consideration, the reported cases are likely to have different etiopathogeneses.…”

Section: Resultsmentioning

confidence: 99%

Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene

et al. 2015

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BackgroundHeritable forms of epidermolysis bullosa (EB) constitute a heterogeneous group of skin disorders of genetic aetiology that are characterised by skin and mucous membrane blistering and ulceration in response to even minor trauma. Here we report the occurrence of EB in three Danish Hereford cattle from one herd.ResultsTwo of the animals were necropsied and showed oral mucosal blistering, skin ulcerations and partly loss of horn on the claws. Lesions were histologically characterized by subepidermal blisters and ulcers. Analysis of the family tree indicated that inbreeding and the transmission of a single recessive mutation from a common ancestor could be causative. We performed whole genome sequencing of one affected calf and searched all coding DNA variants. Thereby, we detected a homozygous 2.4 kb deletion encompassing the first exon of the LAMC2 gene, encoding for laminin gamma 2 protein. This loss of function mutation completely removes the start codon of this gene and is therefore predicted to be completely disruptive. The deletion co-segregates with the EB phenotype in the family and absent in normal cattle of various breeds. Verifying the homozygous private variants present in candidate genes allowed us to quickly identify the causative mutation and contribute to the final diagnosis of junctional EB in Hereford cattle.ConclusionsOur investigation confirms the known role of laminin gamma 2 in EB aetiology and shows the importance of whole genome sequencing in the analysis of rare diseases in livestock.Electronic supplementary materialThe online version of this article (doi:10.1186/s12917-015-0334-8) contains supplementary material, which is available to authorized users.

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Congenital generalized epidermolysis bullosa in a calf

Cited by 13 publications

References 5 publications

Epidermolysis bullosa in animals: a review

Epidermolysis bullosa in animals: a review

Epidermolysis Bullosa in Calves in the United Kingdom

Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene

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