Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in a Cavalier King Charles spaniel with a single defective copy of the FAM83H gene

Authors: Nimmo JS, McMillan E, Sofronidis G
Publication: Australian Veterinary Practitioner, Volume 50, Issue 1, pp 41-45, Mar 2020
Publisher: Australian Veterinary Association

Animal type: Dog
Subject Terms: Allergy, Animal remedies/veterinary medicines, Clinical examination, Genetics
Article class: Clinical Report

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Abstract:

A male neutered Cavalier King Charles spaniel was presented initially because of pruritus, seborrhoea and otitis externa at about 15 months of age. The initial clinical diagnosis was allergic dermatitis. Treatment with antibiotic and antifungal ear preparations, prednisolone and cephalosporins over the following year did not fully resolve the problem and the dog also developed a mucopurulent conjunctivitis with keratoconjunctivitis sicca. The dermatological and ophthalmological conditions prompted investigation for the condition known as congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), which has been previously reported overseas in Cavalier King Charles spaniels. Histopathology of skin biopsies confirmed the likelihood of the latter diagnosis. Genetic testing was undertaken and established that the dog was heterozygous for the disorder.

The dermatosis and the keratoconjunctivitis are being managed by ongoing symptomatic therapy, with reasonable response to the former, however, the keratoconjunctivitis sicca is expected to result in eventual blindness./p>

Clinical cases of CKCSID are generally thought to be homozygous for the genetic mutation, although this has been questioned in some publications. The heterozygosity of the present case adds support to another mode of expression.

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