Table 1 Synoptical table for congenital skin lesions and malformations in horses
From: Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome
Disease | WFFS | HERDA | EDLS |
|---|---|---|---|
Full Name | Warmblood Fragile Foal Syndrome | Hereditary Equine Regional Dermal Asthenia | Ehlers-Danlos-like syndrome of unknown origin |
Breed | Warmblood | Quarter Horse (lineage: stallion Poco Bueno) | Warmblood, Quarter horse, Drafthorse, Arabian, Thoroughbred |
Gene | PLOD1: “procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1” (LH1: lysyl hydrohylase 1) | PPIB: “peptidyl-prolyl cis-trans isomerase B” (Cyclophilin B) | Involved genes not elucidated up to now |
Symptoms | Lesions of skin/mucosa (tearing, ulcerations); Hyperextension of articulations, floppy ears, hydrops, subcutaneous emphysema, hematomas, premature birth | Fragile and hyper extensible skin, lacerations, seromas, hematomas, ulcerations, scars | Skin hyper elasticity, loss of hoof capsule, lesions on back, flanks, shoulders, legs, scarring, pregnancy loss, retention of fetal membranes |
Localisation of lesions | Head, neck, thorax, legs, abdomen, stifle, withers, perineum, oral mucous membranes, articular cartilage | Back and from back extending, may involve: tendons, ligaments, great vessels, cornea | Variable |
Age | Most common in neonates | Mostly older horses, also possible in neonates | Neonates as well as adult horses |
Heredity | Autosomal recessive | Autosomal recessive | Heredity mode not described |
Genetic testing available | Yes | Yes | No |
Prevalence of mutation | Up to 11.11% in clinically normal adult Warmblood horses | Prevalence up to 28.3% in Cutting horses | Prevalence unknown |
Data sources | Patent application | Ishikawa et al. (2012) [13] | Gunson et al. (1984) [25] |
Winand N (2012) | Mochal et al. (2010) [33] | Esser M. et al. (1999) [19] | |
Grady et al. (2009) [32] | |||
Steelman et al. (2013) [36] |