Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation in a Golden Retriever–Poodle Cross-Bred Dog and the Effect of Topical Therapy

This case report described a six-month-old goldendoodle with autosomal recessive congenital ichthyosis (ARCI) due to a PNPLA1 mutation. Initial treatment with oral fatty acids and a humectant rinse showed only mild improvement. However, the addition of a weekly topical essential oils and fatty acid product led to marked improvement in clinical signs over 13 months. Discontinuation of the topical therapy resulted in worsening of symptoms, which improved upon resumption. This suggested that long-term combination therapy of oral fatty acids and topical treatments was beneficial for managing ARCI in this dog.