Connective tissue disorders in domestic animals.

This research article focuses on the various connective tissue disorders in domestic animals like dogs, cats, horses, cattle, and sheep. It studies the low prevalence of these diseases, the lack of advancements in diagnosis and understanding, and reviews some known diseases like Ehlers-Danlos syndrome in dogs and cats, Marfan syndrome in cattle, and dermatosparaxis in cows and sheep.

Connective Tissue Disorders in Domestic Animals

• The researchers present a detailed study on various connective tissue disorders that affect domestic animals like dogs, cats, horses, and several small mammals. The focus of this study includes diseases like Ehlers-Danlos syndrome (EDS), dermatosparaxis, Marfan syndrome (MFS), Hereditary equine regional dermal asthenia (HERDA), and Degenerative suspensory ligament desmitis (DSLD).

Ehlers-Danlos Syndrome (EDS) in Dogs and Cats

• The syndrome was already described in dogs in 1943 and later in cats. Signs of the syndrome include thin, hyperextensible skin that easily succumbs to injuries, leading to hemorrhagic wounds and atrophic scars. Systemic complications like organ rupture or cardiovascular problems common in humans have not been observed in cats and dogs suffering from EDS.
• The diagnosis of EDS in animals involves checking for disorganized and fragmented collagen fibrils using light or electron microscopy, in addition to the clinical presentation.

Dermatosparaxis in Bovine and Ovine

• Dermatosparaxis, analogous to EDS type VIIC in humans, is found in cattle and sheep. It is caused by mutations in the procollagen I N-proteinase (pnPI) or ADAMTS2 gene, although the researchers suggest that there might be other culprits for different types of dermatosparaxis.

Marfan Syndrome (MFS) in Cattle

• Cattle suffering from MFS have been observed to have aortic dilatation and aneurysm, along with ocular abnormalities and skeletal involvement. Similar to human Marfan syndrome, mutations in different sites of bovine FBN1 might be responsible for the Marfan phenotype.

Hereditary Equine Regional Dermal Asthenia (HERDA) in Horses

• HERDA, also known as hyperelastosis cutis, primarily affects the horse’s skin and occasionally tendons. In some cases, a mutation in the cyclophilin B gene has been identified.

Warmblood Fragile Foal Syndrome (WFFS) In Horses

• WFFS is another disorder that is similar to Ehlers-Danlos syndrome, which majorly affects Warmblood horses, leading to skin fragility and joint hyperextensibility.

Degenerative Suspensory Ligament Desmitis (DSLD) in Horses

• The DSLD is a disease that affects mainly the tendons and ligaments of certain horse breeds. The research carried out in the laboratory showed excessive accumulation of proteoglycans in organs with high content of connective tissues. Increased presence of bone morphogenetic protein 2 (BMP2) in active foci of DSLD and an abnormal form of decorin in proteoglycan deposits were found.
• The researchers also used next-generation sequencing to identify disturbances in the expression of genes for numerous proteoglycans and collagens.