Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study

Abstract

The histopathological and ultrastructural characteristics strongly suggest that golden retriever ichthyosis is a retention ichthyosis, caused by absence of corneodesmosomal degradation, transmitted through an autosomal recessive mode.

Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency

“…Clinically, American Bulldogs have striking Malassezia overgrowth, which is uncommon in PNPLA1 –deficient Golden Retrievers, 15,16,23 and this finding is further supported by the authors’ clinical experience. TGM1-deficient lamellar ichthyosis in Jack Russell Terriers is also characterized by Malassezia overgrowth.…”

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

“…To the best of the authors’ knowledge, this is the first case report of ARCI due to PNPLA1 mutation in a goldendoodle dog. The mode of inheritance of ichthyosis with mutations of PNPLA1 in golden retriever dogs is autosomal recessive with heterozygous carriers being asymptomatic . Based on the known phenotypes of relatives of this goldendoodle dog, the review of a tentative pedigree also suggests an autosomal recessive mode of inheritance (Figure ).…”

“…Recently, the umbrella term of autosomal recessive congenital ichthyoses (ARCI) was introduced to encompass the entities previously known as lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis . At this time, canine variants of ARCI have been characterized in the golden retriever, Jack Russell terrier and American bulldog breeds …”

“…Similar to human ARCI, the clinical presentations, histopathological findings and genomic mutations of the canine syndrome vary with the genetic ethnicity/breed. In golden retriever dogs, the clinical phenotype is that of a nonepidermolytic ichthyosis characterized by generalized, small to large and white‐to‐grey scaling . Microscopic skin lesions include diffuse laminar to compact orthokeratotic hyperkeratosis with absent‐to‐minimal epidermal hyperplasia, perinuclear vacuolation and a lack of dermal inflammation.…”

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

“…Ichthyoses comprise a heterogeneous family of hereditary cornification disorders caused by the abnormal differentiation and shedding of keratinocytes (desquamation), mainly in the outermost epidermal skin layer. The described molecular mechanisms underlying ichthyosis involve defects in the intracellular lipid barrier and cornified cell envelope, and the abnormal deposition of keratin or filaggrin degradation products, all of which play important roles in skin barrier function . There are several recognized autosomal recessive congenital ichthyoses (ARCI) disorders in dogs .…”