Autosomal recessive congenital ichthyosis due to <i><scp>PNPLA</scp>1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy

Tamamoto-Mochizuki, Chie; Banović, Frane; Bizikova, Petra; Laprais, Aurore; Linder, Keith E.; Olivry, Thierry

doi:10.1111/vde.12323

Cited by 10 publications

(15 citation statements)

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“…Furthermore, recent reports provide experimental evidence that topical application of skin lipids (e.g. omega‐ O ‐acylceramide) might represent a therapeutic strategy for the treatment of ichthyosis caused by PNPLA1 mutations …”

Section: Discussionmentioning

confidence: 99%

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

et al. 2017

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We estimate the frequency of PNPLA1 mutations among patients with ARCI to be around 3%. Most of our patients were born as collodion babies and showed a relatively mild ichthyosis phenotype. In four unrelated patients we observed a cyclic scaling course, which seems to be a potential phenotypic variation in a small percentage of patients with PNPLA1 mutations. The variability of the clinical manifestations and the lack of typical clinical features are specific for patients with PNPLA1 mutations, and emphasize the importance of DNA sequencing for differential diagnosis of ARCIs.

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Section: Discussionmentioning

confidence: 99%

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

et al. 2017

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“…; & Tamamoto‐Mochizuki et al . ). According to one review, topical therapy using keratolytic agents, emollients and topical antimicrobials remains the best option.…”

Section: Discussionmentioning

confidence: 97%

“…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 . ; & Puigdemont et al . ).…”

Section: Discussionmentioning

confidence: 98%

“…To date, no treatment allows a complete persistent regression of clinical signs. Continuous treatment is necessary to maintain a regression of clinical signs and relapse is often reported soon after treatment frequency is decreased (Mauldin 2013;& Tamamoto-Mochizuki et al 2016). In the case described, a rapid relapse of clinical signs was observed after decreasing the frequency of topical treatments which confirmed the necessity of continuous treatment.…”

Section: Discussionmentioning

confidence: 99%

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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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“…The first pathogenic PNPLA1 variant was identified in Golden Retriever ichthyosis, which is characterized by a mild phenotype. Interestingly, this canine genodermatosis currently has an extremely high prevalence in the breed [11,12]. Other dog models for human non-syndromic ichthyoses include Norfolk Terriers with an epidermolytic ichthyosis caused by a KRT10 variant [13], Bulldogs with ARCI caused by a NIPAL4 variant [14], and Jack Russell Terriers with another form of ARCI caused by a TGM1 variant [15].…”

Section: Introductionmentioning

confidence: 99%

A de novo variant in the ASPRV1 gene in a dog with ichthyosis

et al. 2017

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Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer. We studied a German Shepherd dog with a novel form of ichthyosis. Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding “aspartic peptidase, retroviral-like 1”, which is also known as skin aspartic protease (SASPase). The variant was absent in both parents and therefore due to a de novo mutation event. It was a missense variant, c.1052T>C, affecting a conserved residue close to an autoprocessing cleavage site, p.(Leu351Pro). ASPRV1 encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. By immunofluorescence staining we showed that the filaggrin expression pattern was altered in the affected dog. Thus, our findings provide strong evidence that the identified de novo variant is causative for the ichthyosis in the affected dog and that ASPRV1 plays an essential role in skin barrier formation. ASPRV1 is thus a novel candidate gene for unexplained human forms of ichthyoses.

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Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy

Abstract: 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.

Cited by 10 publications

References 11 publications

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

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

A de novo variant in the ASPRV1 gene in a dog with ichthyosis

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