Disease overview

Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID) are two components of the disease known as Dry Eye-Curly Coat Syndrome. Congenital keratoconjunctivitis sicca is an eye condition that leads to an inability to produce tears. This disease is typically accompanied by ichthyosiform dermatosis, which is a skin condition characterized by thickened, scaling skin that is especially prominent on the paw pads.

Gene name

FAM83H

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include thickened, hardened footpads. This can lead to severe discomfort and pain with cracking. Hair can present as rough and sparse throughout the body, typically with scaling skin. The eyes become extremely dry and are prone to damage, from corneal ulcers, infections, and discharge. There is a higher incidence of dental disease in affected dogs.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. A skin biopsy can help with diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS. Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet. 2012 Jan;8(1):e1002462. doi: 10.1371/journal.pgen.1002462. Epub 2012 Jan 12. PMID: 22253609; PMCID: PMC3257292.

Hartley C, Donaldson D, Smith KC, Henley W, Lewis TW, Blott S, Mellersh C, Barnett KC. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol. 2012 Sep;15(5):315-26. doi: 10.1111/j.1463-5224.2011.00986.x. Epub 2011 Dec 29. PMID: 22212237.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.