Peer-reviewed veterinary case report
Skin scaling in 6-month-old goldendoodle helped by fatty acid
By Tamamoto-Mochizuki, Chie et al.·Published in Veterinary dermatology·2016·Department of Clinical Sciences, United States·View original on PubMed →
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Original publication title: Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy.
- Species:
- dog
Plain-English summary
A 6-month-old goldendoodle was brought in for severe scaling on her skin that started when she was just 6 weeks old. After testing, she was diagnosed with a genetic skin condition called autosomal recessive congenital ichthyosis due to a mutation in the PNPLA1 gene. The vet started her on daily oral fatty acids and a moisturizing shampoo, which helped a little, but the real improvement came when a topical treatment with essential oils and fatty acids was added. Thirteen months later, her skin condition showed significant improvement, and stopping the topical treatment caused her symptoms to worsen, confirming its effectiveness.
People also search for: goldendoodle skin problems · ichthyosis treatment for dogs · fatty acids for dog skin issues
Abstract
BACKGROUND: Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epidermal cornification. Although the clinical presentation, histopathological findings and genetic cause of autosomal recessive congenital ichthyosis (ARCI) in golden retriever dogs have been well investigated, the optimal management of this disease remains uncharacterized. OBJECTIVES: In this report we describe the beneficial effect of oral and topical fatty acids for management of a golden retriever and poodle cross-bred dog (goldendoodle) with ARCI due to a PNPLA1 (Patatin-like phospholipase domain containing 1) mutation. CASE REPORT: A six-month-old, intact female, second generation golden retriever and poodle cross-bred dog presented with a history of generalized scaling since the age of 6 weeks. Histopathology showed diffuse, laminated-to-compact hyperkeratosis with a single small perinuclear vacuole in occasional stratum granulosum keratinocytes. Genetic testing revealed a homozygotic insertion/deletion mutation in the gene PNPLA1. Daily oral fatty acid supplementation and humectant rinse, following weekly moisturizing shampoo, resulted in only mild improvement after two months. Weekly application of a topical essential oils and fatty acid product was then added. Thirteen months after the initial presentation the dog exhibited a marked improvement in clinical signs. The temporal discontinuation of topical therapy resulted in the worsening of scaling, which improved again after resuming this combination. CONCLUSIONS AND CLINICAL IMPORTANCE: To the best of the authors' knowledge, this is the first case report of ARCI with homozygous PNPLA1 mutation in a golden retriever-poodle cross-bred dog. The long-term combination of oral fatty acids and topical therapy appeared to be beneficial in this case.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/27237723/