Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever.

Ana Petak,Ivan-Conrado Šoštarić-Zuckermann,Nikša Lemo,Marko Hohšteter

doi:10.3390/vetsci9030097

Ana Petak, Ivan-Conrado Šoštarić-Zuckermann + Show 2 more

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https://doi.org/10.3390/vetsci9030097

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Journal: Veterinary sciences	Publication Date: Feb 22, 2022
License type: CC BY 4.0

Affiliation: University of Zagreb

Abstract

Ichthyoses are hereditary cornification disorders that manifest with abnormal differentiation and desquamation of keratinocytes in a form of generalized dry and scaly skin. In golden retriever dogs, autosomal recessive congenital ichthyosis (ARCI) has been associated with mutations in the PNPLA 1 gene. In human medicine, isotretinoin is frequently used to treat ARCIs. The aim of this study was to investigate the clinical and histological effects of isotretinoin on ARCI in a golden retriever dog with confirmed mutation in the PNPLA 1 gene. Clinical examination, blood analysis and histopathological examinations were conducted before and after 90 days of isotretinoin therapy. The clinical and histopathological findings indicate that treatment with oral isotretinoin was effective in improving ichthyosis without any side-effects.

Highlights

Ichthyoses represent a large heterogenous group of hereditary cornification disorders that manifest with abnormal differentiation and desquamation of keratinocytes in a form of generalized dry and scaly skin, variable erythroderma and hyperkeratosis [1,2]
History, clinical signs and histopathological changes led to the diagnosis of Autosomal recessive congenital ichthyosis (ARCI) seen in golden retriever dogs
Genetic testing performed on a venous blood sample confirmed that the patient was homozygous for the PNPLA 1 gene mutation

Summary

Introduction

Ichthyoses represent a large heterogenous group of hereditary cornification disorders that manifest with abnormal differentiation and desquamation of keratinocytes in a form of generalized dry and scaly skin, variable erythroderma and hyperkeratosis [1,2]. Autosomal recessive congenital ichthyosis (ARCI) has been associated with mutations in the patatinlike phospholipase domain-containing protein 1 (PNPLA 1) gene in dogs and humans [3,4]. Retinoids are frequently used for treatment of ichthyoses because of their ability to modulate epidermal proliferation, differentiation and inflammation [6,7]. Current therapy recommendations for canine ichthyoses are focused on removing the scales and improving the epidermal barrier with topical keratolytic, keratoplastic and/or moisturizing products [8], together with oral fatty acid supplementation [9], but with variable improvements.

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