Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study

Puigdemont, Anna; Furiani, Nicla; Lucia, Michela De; Carrasco, Isaac; Ordeix, Laura; Fondevila, Dolors; Ramió‐Lluch, Laura; Brazı́s, Pilar

doi:10.1111/vde.12654

Cited by 7 publications

(13 citation statements)

References 13 publications

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“…The wipes used here have been shown to be efficient against Malassezia dermatitis, and are interesting in this case where secondary Malassezia dermatitis is present (Cavana et al 2015). Other combinations of topical treatments (sometimes combined with oral fatty acid supplementation) have been described such as emollient, moisturizers, essential oil and more recently a combination of gluconolactone and other hydroxyl acids (Tamamoto-Mochizuki et al 2016;& Puigdemont et al 2018). In any case, a combination of different treatments seems to be a good option even if clinical response is never complete and continuous treatment is necessary.…”

Section: Discussionmentioning

confidence: 95%

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NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

Briand

Cochet-Faivre

Reyes-Gomez

et al. 2019

Veterinary Medicine & Sci

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Ichthyoses represent a heterogeneous group of hereditary cornification disorders characterized by generalized scaling of the skin. An autosomal recessive congenital ichthyosis ( ARCI ) has been described in American Bulldogs and is caused by a variant in the NIPAL 4 gene encoding for the ICHTHYIN protein. So far, this variant has not been described in other breeds. A 1.5‐year‐old female pedigreed American Bully was referred for generalized scaling and bad coat quality since adoption at 8 weeks of age. Clinical examination, cytological and histopathological examination, and DNA testing were performed. Clinical examination revealed a generalized scaling; cytological evaluation using impression with acetate tapes showed a secondary Malassezia dermatitis. Histopathological examination revealed a moderate to marked, diffuse, compact orthokeratotic hyperkeratosis with the formation of large scales. Few Malassezia were observed in the stratum corneum associated with minimal mixed perivascular inflammation and moderate epidermal hyperplasia. DNA testing of the dog revealed that he carries two defective alleles of the NIPAL 4 gene previously described in the American Bulldog. We performed a commercially available breed detection test which, although not specifically testing for “American Bully” signatures, revealed a high probability of American Bulldog DNA signature within the past three generations. Topical treatment using a combination of keratolytic and keratomodulator shampoo, emollient and moisturizers spray and antimicrobial wipes achieved a marked clinical improvement after only 1 month. Continuous topical treatment was necessary to maintain clinical improvement. To the authors’ knowledge, this is the first description of the deleterious NIPAL 4 variant in an American Bully as well as the first description of clinical management and follow‐up of ARCI in this breed.

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Section: Discussionmentioning

confidence: 95%

“…; & Puigdemont et al . ). In any case, a combination of different treatments seems to be a good option even if clinical response is never complete and continuous treatment is necessary.…”

Section: Discussionmentioning

confidence: 97%

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

Briand

Cochet-Faivre

Reyes-Gomez

et al. 2019

Veterinary Medicine & Sci

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“…El diagnóstico definitivo se realiza con un análisis histopatológico mediante biopsias de piel (6) . Los hallazgos en el presente caso coinciden con los mencionados en otros casos de ictiosis, estos son: Hiperqueratosis ortoqueratósica difusa e hiperplasia epidermal sin inflamación dérmica.…”

Section: Discussionunclassified

“…Existen diversos tratamientos para el manejo de la ictiosis tales como productos tópicos queratinolíticos, queratoplásticos y agentes humectantes que sean capaces de eliminar las escamas de la piel, prevenir la pérdida de agua y restaurar la barrera epidérmica, obteniendo una mejoría parcial del estado general de la piel (6) .…”

Section: Introductionunclassified

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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“…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 unfortunately with variable improvements.…”

Section: Introductionmentioning

confidence: 99%

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever

Petak¹,

Šoštarić-Zuckermann

Hohšteter

et al. 2022

Veterinary Sciences

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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.

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Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study

Abstract: The frequent use of a shampoo and lotion containing gluconolactone may be an effective measure to improve skin scaling in golden retrievers with ARCI.

Cited by 7 publications

References 13 publications

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

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

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever

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