Is “milk crust” a transient form of golden retriever ichthyosis?

Roethig, Anja; Schildt, Kirsti J M; Welle, Monika Maria; Wildermuth, Brett E.; Neiger, Reto; Thom, Nina

doi:10.1111/vde.12216

Cited by 5 publications

(14 citation statements)

References 10 publications

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“…Data collected were not statistically different ( p > 0.05) from data reported in the literature [ 10 , 11 ].…”

Section: Discussioncontrasting

confidence: 66%

“…In Germany, a wild-type, heterozygous, or homozygous variant of the PNPLA1 gene was demonstrated in 19%, 53%, and 28% of Golden Retriever puppies, respectively. In the same study a wild-type, heterozygous, or homozygous mutant of the PNPLA1 gene was demonstrated in 18%, 47%, and 35% of adult dogs, respectively [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

“…In our experience, ichthyosis is rarely considered a disease and mild to moderate scales or hyperpigmentation are not perceived as symptoms by breeders, so another reason could be found in wrong information obtained by breeders regarding skin lesions in puppyhood. Recently, a study demonstrated homozygous puppies could exhibit clinical signs suggestive of ichthyosis prior to 1 year of age and become subclinical in adulthood suggesting that the PNPLA1 genotype is more closely correlated with the clinical phenotype at a young age than in adulthood [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

“…Results are presented as odds ratios (Ors) for the presence of the PNPLA1 variant. Results of our study were compared with two analog studies [ 10 , 11 ] using the same test used before. For the comparison of our results with [ 11 ], only female PNPLA1 prevalence was used.…”

Section: Methodsmentioning

confidence: 99%

“…Results of our study were compared with two analog studies [ 10 , 11 ] using the same test used before. For the comparison of our results with [ 11 ], only female PNPLA1 prevalence was used. Significance was set at p < 0.05, and all analyses were performed with statistical software SPSS 22 (IBM, Armonk, NY, USA).…”

Section: Methodsmentioning

confidence: 99%

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Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs

Graziano¹,

Vasconi

Cornegliani³

2018

Veterinary Sciences

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A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs. The aims of this study were to investigate the prevalence of the PNPLA1 gene variant in Golden Retrievers used for breeding and to provide more information to breeders in order to restrict the spread of this disease. Clinical examination and assessment of the PNPLA1 genotype using PCR testing of oral swabs were performed in 48 breeding Golden Retrievers. Wild-type, heterozygous or homozygous variants of the PNPLA1 gene were demonstrated in 10 (21%), 23 (48%), and 15 (31%) of the 48 dogs, respectively. In only 3 of the 48 dogs were clinical signs suggestive of ichthyosis identified. Data collected agreed with data reported in the literature. The high prevalence of homozygous and heterozygous variants makes the exclusion of mutated dogs from breeding impractical. Furthermore, the reliability of the PNPLA1 mutation in prediction of clinical signs of ichthyosis is unclear. Additional studies are needed to investigate if PNPLA1 is the only gene involved or if other genes and environmental factors have a role in the development of ichthyosis in Golden Retrievers.

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“…Data collected were not statistically different ( p > 0.05) from data reported in the literature [ 10 , 11 ].…”

Section: Discussioncontrasting

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs

Graziano¹,

Vasconi

Cornegliani³

2018

Veterinary Sciences

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Ichthyosis and hereditary cornification disorders in dogs

Mauldin

Elias

2021

Veterinary Dermatology

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The stratum corneum (SC), the outermost layer of the epidermis, serves a crucial role in maintaining body hydration and protection from environmental insults. When the stratum corneum is injured or when the genetic blueprints are flawed, the body is at risk of dehydration, secondary infections and allergen sensitization. Advancements in veterinary dermatology have revealed a wide gamut of disease from relatively benign to lethal that specifically arise from flawed structural proteins, enzymes or lipids needed to create the corneocytes and lipid bilayers of the SC. Some conditions closely mimic their human counterparts while others are unique to the dog. This review will focus on forms of ichthyosis in the dog.

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Ictiosis canina, más allá de una simple descamación: reporte de caso en un Boston terrier

Palacios

Hidalgo²,

Pinos

et al. 2021

Ces. Med. Vet. Zootec.

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La ictiosis canina es un trastorno queratoseborreico primario de carácter hereditario, el cual se ha reportado en Golden retriever, Bull dog americano, Jack Russell terrier, Cavalier King Charles spaniel y Gran danés. En el presente reporte se describe un caso clínico en un Boston terrier que desde cachorro ha presentado diferentes lesiones cutáneas, tiene años de evolución y varios tratamientos previos sin éxito. El diagnóstico se realizó mediante el descarte de otras dermatopatías y un estudio histopatológico. Se instauró un tratamiento multimodal de por vida para reestablecer la barrera cutánea y manejar el desorden de la cornificación.

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Is “milk crust” a transient form of golden retriever ichthyosis?

Abstract: We hypothesize that the clinical syndrome termed "milk crust" could represent a transient form of golden retriever ichthyosis. Remission is not fully linked to PNPLA1 genotype, suggesting that unknown factors may contribute to the clinical disease.

Cited by 5 publications

References 10 publications

Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs

Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs

Ichthyosis and hereditary cornification disorders in dogs

Ictiosis canina, más allá de una simple descamación: reporte de caso en un Boston terrier

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