Disease Ontology ID: DDTO:0000544
Disease Description: An abnormal looseness to the skin characterized by large, deep, blister-like lesions.
Inherit Mode: From the few cases studied to date, the mode of inheritance is thought to be autosomal recessive.
Disease Symptom: Severely affected pups develop blisters andcrusted erosive ulcerson the footpads, face, genital region and ears, and in the mouth.Mildly affected dogsdevelop occasional blisters in these areas, especially if there isfriction or trauma tothe skin.
Disease Cause: -
Disease Diagnose: Diagnosis is by skin biopsy. This is a simpleprocedure, done withlocal anesthetic, in which your veterinarian removes a small sample ofyour dog's skin forexamination by a veterinary pathologist.
Treat Method: There is no specific treatment for epidermolysisbullosa, but dogsthat are mildly affected can lead a relatively normal life withmanagement of theirsurroundings to minimize trauma, and appropriate treatment ofoccasional secondaryinfections.
Breeder Advice: Affected dogs and their close relatives should notbe used forbreeding.
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Epidermolysis bullosa | - | - | - | ||
| Epidermolysis bullosa, dystrophic | Recessive dystrophic epidermolysis bullosa (RDEB) | Autosomal Recessive | - | ||
| Epidermolysis bullosa, simplex | - | - | - | ||
| Epidermolysis bullosa, junctionalis, LAMA3-related | - | Autosomal Recessive | - | ||
| Epidermolysis bullosa, simplex, PLEC-related | - | Autosomal Recessive | - |
| iDog Breed Number | Breed Name | Personality | Height | Weight | Breed Source |
|---|---|---|---|---|---|
| CB217 | Japanese Shiba Inu | Alert, active, and attentive | 35.6-43.2 cm (male), 33-40.6 cm (female) | 8.2-10.9 kg (male), 6.8-9.1 kg (female) | Japan |
| 2020 |
Kiener,S.,Laprais,A.,Mauldin,E.A.,Jagannathan,V.,Olivry,T.,Leeb,T.: :
<i>LAMB3</i> Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa. Genes (Basel) 11:, 2020. Pubmed reference: 32906717 . DOI: 10.3390/genes11091055 . |
| 2020 |
Has,C.,Bauer,J.W.,Bodemer,C.,Bolling,M.C.,Bruckner-Tuderman,L.,Diem,A.,Fine,J.D.,Heagerty,A.,Hovnanian,A.,Marinkovich,M.P.,Martinez,A.E.,McGrath,J.A.,Moss,C.,Murrell,D.F.,Palisson,F.,Schwieger-Briel,A.,Sprecher,E.,Tamai,K.,Uitto,J.,Woodley,D.T.,Zambruno,G.,Mellerio,J.E.: :
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol :, 2020. Pubmed reference: 32017015 . DOI: 10.1111/bjd.18921 . |
| 2020 |
Garcia,T.M.,Kiener,S.,Jagannathan,V.,Russell,D.S.,Leeb,T.: :
A COL7A1 variant in a litter of neonatal Basset Hounds with dystrophic epidermolysis bullosa. Genes (Basel) 11:, 2020. Pubmed reference: 33291836 . DOI: 10.3390/genes11121458 . |
| 2017 |
Niskanen,J.,Dillard,K.,Arumilli,M.,Salmela,E.,Anttila,M.,Lohi,H.,Hytönen,M.K.: :
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One 12:e0177527, 2017. Pubmed reference: 28493971 . DOI: 10.1371/journal.pone.0177527 . |
| 2016 |
Mauldin,E.A.,Wang,P.,Olivry,T.,Henthorn,P.S.,Casal,M.L.: :
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Vet Dermatol :, 2016. Pubmed reference: 27878870 . DOI: 10.1111/vde.12394 . |
| 2015 |
Medeiros,G.X.,Riet-Correa,F.: :
Epidermolysis bullosa in animals: a review. Vet Dermatol 26:3-13, e1-2, 2015. Pubmed reference: 25354580 . DOI: 10.1111/vde.12176 . |
| 2011 |
Gache,Y.,Pin,D.,Gagnoux-Palacios,L.,Carozzo,C.,Meneguzzi,G.: :
Correction of Dog Dystrophic Epidermolysis Bullosa by Transplantation of Genetically Modified Epidermal Autografts. J Invest Dermatol :, 2011. Pubmed reference: 21697889 . DOI: 10.1038/jid.2011.172 . |
| 2005 |
Magnol,JP.,Pin,D.,Palazzi,X.,Lacour,JP.,Gache,Y.,Meneguzzi,G.: :
[Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol] Bull Acad Natl Med 189:107-19; discussion 119-21, 2005. Pubmed reference: 16119884 . |
| 2005 |
Capt,A.,Spirito,F.,Guaguere,E.,Spadafora,A.,Ortonne,J.P.,Meneguzzi,G.: :
Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124:530-5, 2005. Pubmed reference: 15737193 . DOI: 10.1111/j.0022-202X.2004.23584.x . |
| 2003 |
Baldeschi,C.,Gache,Y.,Rattenholl,A.,Bouillé,P.,Danos,O.,Ortonne,J.P.,Bruckner-Tuderman,L.,Meneguzzi,G.: :
Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109 . |
| 2003 |
Guaguere,E.,Capt,A.,Spirito,F.,Meneguzzi,G.: :
Junctional epidermolysis bullosa in the german shorthaired pointer: a spontaneous model for junctional epidermolysis bullosa in man Bull Acad Vet France 157:47-51, 2003. |
| 2000 |
Palazzi,X.,Marchal,T.,Chabanne,L.,Spadafora,A.,Magnol,J.P.,Meneguzzi,G.: :
Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology 115:135-137, 2000. Pubmed reference: 10886525 . DOI: 10.1046/j.1523-1747.2000.00031-5.x . |
| 2000 |
Olivry,T.,Petersen,A.,Dunston,S.M.,Chen,M.: :
Novel localised variant of canine epidermolysis bullosa acquisita Veterinary Record 146:193-194, 2000. Pubmed reference: 10718593 . |
| 1998 |
Xu,L.T.,Chen,M.,Peng,J.,Otoole,E.A.,Woodley,D.T.,Chan,L.S.: :
Molecular cloning and characterization of a cdna encoding canine type vii collagen non-collagenous (NC1) domain, the target antigen of autoimmune disease epidermolysis bullosa acquisita (eba) Biochimica et Biophysica Acta - Molecular Basis of Disease 1408:25-34, 1998. |
| 1997 |
Nagata,M.,Iwasaki,T.,Masuda,H.,Shimizu,H.: :
Non-lethal junctional epidermolysis bullosa in a dog British Journal of Dermatology 137:445-449, 1997. Pubmed reference: 9349347 . |
| 1997 |
Olivry,T.,Poujadedelverdier,A.,Dunston,S.M.,Fine,J.D.,Ortonne,J.P.: :
Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa Veterinary Dermatology 8:203-212, 1997. |
| 1995 |
Nagata,M.,Shimizu,H.,Masunaga,T.,Nishikawa,T.,Nanko,H.,Kariya,K.,Washizu,T.,Ishida,T.: :
Dystrophic form of inherited epidermolysis bullosa in a dog (akita inu) British Journal of Dermatology 133:1000-1003, 1995. Pubmed reference: 8547021 . |
| 1995 |
Scott, D.W., Miller, W.H., Griffin, C.E. :
Mullerand Kirk's Small Animal Dermatology W.B. Saunders Co.,Toronto. pp 756 |
| 1977 |
Scott,D.W.,Schultz,R.D.: :
Epidermolysis bullosa simplex in the Collie dog Journal of the American Veterinary Medical Association 171:721-727, 1977. Pubmed reference: 924841 . |