The detail information of Ehlers Danlos syndrome
Basic Information

Disease Ontology ID: DDTO:0000580

Another Name: cutaneous asthenia

Disease Description: A connective tissue disease characterized by loose, hyperextensible and very fragile skin that tears easily .

Inherit Mode: -

Disease Symptom: Symptoms are seen from birth, and can vary considerably in severity. They include: Fragile skin Loose or stretchy skin; Hyperextensible skin; Hanging folds of skin ;Looseness in joints; Connective tissue dysfunction;s Painful skin tears; Skin bruising; Subcutaneous hematoma, or hard blood masses under the skin ; Hygroma formations, or soft, fluid filled sacs that form over pressure points ;Delayed and poor wound healing; Extensive scarring from wound healing; Increased infections ;Lameness ;Pregnancy complications, uterine rupture or prolapse in females; Eye abnormalities; Dry and fine hair ;Weakened blood vessels

Disease Cause: Ehlers-Danlos syndrome is caused solely by an inherited gene that affects collagen production.

Disease Diagnose: A suspicion of Ehlers-Danlos syndrome is based on symptoms and a history of your dog, which may include lacerations, abscesses, and thin scars. To come to a positive diagnosis, your veterinarian will use a skin extensibility test to assess the hyper-elasticity of skin, using the skin extensibility index as a reference. A skin biopsy may be submitted to study the collagen structure and density.

Treat Method: There is no available cure for this condition. Treatment involves management of wounds and lifestyle modifications to accommodate your dog’s fragile, lifelong condition.Surgery may be required for large and deep tears as they occur, often with anesthesia. Vitamin C supplements have shown improvements in symptoms and may be prescribed.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Ehlers-Danlos syndrome - - -
Ehlers-Danlos syndrome, type VII (Dermatosparaxis) - Autosomal Recessive -
Ehlers-Danlos syndrome, classic type, 1 - Autosomal Dominant -
Ehlers-Danlos syndrome, classic-like, 1 - Autosomal Recessive -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB25 Bearded Collie Bouncy, charismatic, friendly; smart, but also stubborn and independent 53.3-55.9 cm (male), 50.8-53.3 cm (female) 20.4-24.9 kg United Kingdom (Scotland)
CB49 Boykin Spaniel Friendly, eager, trainable, lovable 39.4-45.7 cm (male), 35.6-41.9 cm (female) 13.6-18.1 kg (male), 11.3-15.9 kg (female) United States
CB78 Cocker Spaniel Happy, smart, gentle 36.8-39.4 cm (male), 34.3-36.8 cm (female) 11.3-13.6 kg (male), 9.1-11.3 kg (female)
CB98 English Toy Spaniel Affectionate, Alert, Merry 22.9-25.4 cm 3.6-6.4 kg England
CB111 German Short-Haired Pointer Friendly, smart, willing to please 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
CB123 Hamiltonstovare(Hamilton Hound) Agile, Versatile, Regal 53-61cm (male) 49-57cm (female) 18-26kg Sweden
CB233 Stabyhoun Friendly, sensitive, intelligent, peaceful, patient, and willing to please, but may be stubborn on occasion Netherlands
Associated Disease Variants from OMIA
Gene Differential Expression
References
2019 Bauer,A.,deLucia,M.,Leuthard,F.,Jagannathan,V.,Leeb,T.,Bauer,A.,deLucia,M.,Leuthard,F.,Jagannathan,V.,Leeb,T.: :
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet 50:546-549, 2019.
Pubmed reference: 31365140 . DOI: 10.1111/age.12830 .
2019 Bauer,A.,Bateman,J.F.,Lamandé,S.R.,Hanssen,E.,Kirejczyk,S.G.M.,Yee,M.,Ramiche,A.,Jagannathan,V.,Welle,M.,Leeb,T.,Bateman,F.L.: :
Identification of Two Independent <i>COL5A1</i> Variants in Dogs with Ehlers-Danlos Syndrome. Genes (Basel) 10:, 2019.
Pubmed reference: 31546637 . DOI: 10.3390/genes10100731 .
2015 Uri,M.,Verin,R.,Ressel,L.,Buckley,L.,McEwan,N.: :
Ehlers-Danlos Syndrome Associated with Fatal Spontaneous Vascular Rupture in a Dog. J Comp Pathol :, 2015.
Pubmed reference: 25680848 . DOI: 10.1016/j.jcpa.2014.12.013 .
2014 Halper,J.: :
Connective tissue disorders in domestic animals. Adv Exp Med Biol 802:231-40, 2014.
Pubmed reference: 24443030 . DOI: 10.1007/978-94-007-7893-1_14 .
2004 Barrera,R.,Mañe,C.,Duran,E.,Vives,M.A.,Zaragoza,C.: :
Ehlers-Danlos syndrome in a dog. Can Vet J 45:355-6, 2004.
Pubmed reference: 15144116 .
2003 Stoner,J.,Martin,G.,O'Mara,K.,Ehlers,J.,Tomlanovich,M.: :
Amiodarone and bretylium in the treatment of hypothermic ventricular fibrillation in a canine model. Acad Emerg Med 10:187-91, 2003.
Pubmed reference: 12615580 .
2003 Paciello,O.,Lamagna,F.,Lamagna,B.,Papparella,S.: :
Ehlers-Danlos-like syndrome in 2 dogs: clinical, histologic, and ultrastructural findings Veterinary Clinical Pathology 32:13-8, 2003.
Pubmed reference: 12655483 .
1998 Jelinek,F.,Karban,J.: :
Cutaneous asthenia in one dog Acta Veterinaria Brno 67:109 ff., 1998.
1996 Rodriguez,F.,Herraez,P.,Delosmonteros,A.E.,Calabuig,P.,Rodriguez,J.L.: :
Collagen dysplasia in a litter of Garafiano shepherd dogs Zentralblatt Fur Veterinarmedizin - Reihe A 43:509-512, 1996.
Pubmed reference: 8940898 .
1993 White,S.D.: :
Congenital and genetic skin disease. Tijdschr Diergeneeskd 118 Suppl 1:53S-57S, 1993.
Pubmed reference: 8480320 .
1990 Matthews,B.R.,Lewis,G.T.: :
Ehlers-Danlos Syndrome in a Dog Canadian Veterinary Journal-Revue Veterinaire Canadienne 31:389-390, 1990.
1989 Freeman,L.J.,Hegreberg,G.A.,Robinette,J.D.: :
Cutaneous wound healing in Ehlers-Danlos syndrome. Vet Surg 18:88-96, 1989.
Pubmed reference: 2728341 .
1989 Freeman,L.J.,Hegreberg,G.A.,Robinette,J.D.,Kimbrell,J.T.: :
Biomechanical properties of skin and wounds in Ehlers-Danlos syndrome. Vet Surg 18:97-102, 1989.
Pubmed reference: 2728342 .
1987 Freeman,L.J.,Hegreberg,G.A.,Robinette,J.D.: :
Ehlers-Danlos syndrome in dogs and cats. Semin Vet Med Surg (Small Anim) 2:221-7, 1987.
Pubmed reference: 3423466 .
1970 Hegreberg,G.A.,Padgett,G.A.,Henson,J.B.: :
A heritable connective tissue disease of dogs and mink resembling Ehlers- Danlos syndrome of man. III. Histopathologic changes of the skin Archives of Pathology 90:159-166, 1970.
Pubmed reference: 5464798 .
1970 Hegreberg,G.A.,Padgett,G.A.,Ott,R.L.,Henson,J.B.: :
A heritable connective tissue disease of dogs and mink resembling Ehlers-Danlos syndrome of man. I. Skin tensile strength properties. J Invest Dermatol 54:377-80, 1970.
Pubmed reference: 5462224 .
1969 Hegreberg,G.A.,Padgett,G.A.,Gorham,J.R.,Henson,J.B.: :
A connective tissue disease of dogs and mink resembling the Ehlers-Danlos syndrome of man. II. Mode of inheritance. J Hered 60:249-54, 1969.
Pubmed reference: 5366318 .