Congenital and Inherited Skin Disorders in Horses

Epitheliogenesis imperfecta (aplasia cutis) is a congenital skin deformity. Foals are born with small to extensive areas where skin is missing. Secondary infection is common. One or more hooves may be deformed or absent; in some affected animals, there are other associated congenital anomalies. The condition is fatal when extensive, but small defects can be surgically corrected.

A nevus in humans is a congenital pigmented area on the skin that is often called a birthmark. In animals, the term is used for any area where skin is malformed, including abnormally pigmented spots. Some forms of nevi displace the normal structures of the skin, including hair follicles; thus, these patches are hairless. When not extensive, nevi can be surgically removed; otherwise there is no effective treatment.

Dermoid sinuses or cysts occur in Thoroughbred horses. These cysts are lined with skin. Exfoliated skin, hair, and glandular debris accumulate in the cysts, which can lead to infection. The cysts are found on the midline of the back and in rare cases are associated with spinal cord deficits. They can be removed by surgical excision.

Follicular cysts develop by abnormal hair follicle growth and by retention of follicular or glandular products. They may be congenital when the hair follicle does not develop normally. Periauricular (dentigerous) cysts are seen in horses. Although they are present at birth, they may not be recognized until adulthood.

Skin color abnormalities may be either acquired or hereditary. Abnormalities in skin and coat color are sometimes related.

True albinism is rare and is always associated with pink or pale irises and with visual defects and increased risk of skin damage from solar radiation. Albinism is different from extreme white spotting. Lethal white foal syndrome is one that results from breeding 2 Overo Paints. Some animals with extreme piebaldism (spotted or blotched with black and white) or dominant white have associated neurologic anomalies or deafness in one or both ears.

Vitiligo is hereditary but not noticeable at birth. It is mostly seen in Arabian horses (Arabian fading syndrome, pinky syndrome). The onset is usually in young adulthood. Affected animals develop bleached splotches of skin that occasionally also affect the hair coat and hooves. Most splotches are on the face, especially the bridge of the muzzle or around the eyes. Color loss may wax and wane. Complete remission may occur but is rare. Vitiligo causes no other health problems. No treatment is available. Treatments used in people with vitiligo are unlikely to help animals.

Some genetic defects affect the integrity of the skin. Hereditary equine regional dermal asthenia (HERDA) is a condition, seen mostly in American Quarter Horses, in which the skin produces abnormal collagen and/or elastin. This causes patches or large areas of loose, stretchy, fragile skin and joint problems. Wounds heal slowly or not completely. The condition is often first noticed during training, at the time saddles and tack are first placed on a young horse. Diagnosis is based on visible signs and testing of the collagen structure. The condition has a recessive mode of inheritance. A DNA test has been developed to identify horses that carry the mutation.

Epidermolysis bullosa syndromes are a group of hereditary congenital defects that affect the attachments between the outer and inner layers of the skin. There are 3 types of epidermolysis bullosa syndromes. In all 3 forms, minor skin trauma results in dermal-epidermal separation and blisters that soon rupture, leaving glistening, flat ulcers. Blisters may be present at birth or develop within the first weeks of life. The most severe blisters are on the lower legs (with sloughing of hooves), mouth, face, and genitals. Except for the simplex form, most occurrences of the disease are fatal. All 3 forms of epidermolysis bullosa have been reported in Belgian foals.

Also see professional content regarding congenital and inherited skin disorders in animals.