Autosomal recessive congenital ichthyosis due toPNPLA1mutation in a golden retriever–poodlecross-bred dog and the effect of topical therapy

Chie Tamamoto-Mochizuki*, Frane Banovic*†1, Petra Bizikova*†, Aurore Laprais*, Keith E. Linder†‡and Thierry Olivry*†

*Department of Clinical Sciences, College of Veterinary Medicine, NC State University, 1060 William Moore Drive, Raleigh, NC 27607, USA

†Comparative Medicine Institute, NC State University, Raleigh, NC 27606,USA

‡Department of Population Health and Pathobiology, College of Veterinary Medicine, NC State University, 1060 William Moore Drive, Raleigh,

NC 27607, USA

Correspondence: Thierry Olivry, Department of Clinical Sciences, College of Veterinary Medicine, NC State University, 1060 William Moore Drive,

Raleigh, NC 27607, USA. E-mail: tolivry@ncsu.edu

Background – Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epi-

dermal cornification. Although the clinical presentation, histopathological findings and genetic cause of autosomal

recessive congenital ichthyosis (ARCI) in golden retriever dogs have been well investigated, the optimal manage-

ment of this disease remains uncharacterized.

Objectives – In this report we describe the beneficial effect of oral and topical fatty acids for management of a

golden retriever and poodle cross-bred dog (goldendoodle) with ARCI due to a PNPLA1 (Patatin-like phospholi-

pase domain containing 1) mutation.

Case report – A six-month-old, intact female, second generation golden retriever and poodle cross-bred dog pre-

sented with a history of generalized scaling since the age of 6 weeks. Histopathology showed diffuse, lami-

nated-to-compact hyperkeratosis with a single small perinuclear vacuole in occasional stratum granulosum

keratinocytes. Genetic testing revealed a homozygotic insertion/deletion mutation in the gene PNPLA1. Daily oral

fatty acid supplementation and humectant rinse, following weekly moisturizing shampoo, resulted in only mild

improvement after two months. Weekly application of a topical essential oils and fatty acid product was then

added. Thirteen months after the initial presentation the dog exhibited a marked improvement in clinical signs.

The temporal discontinuation of topical therapy resulted in the worsening of scaling, which improved again after

resuming this combination.

Conclusions and clinical importance – 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 combina-

tion of oral fatty acids and topical therapy appeared to be beneficial in this case.

Introduction

Ichthyoses represent a genetically and phenotypically

heterogeneous syndrome of abnormal epidermal cornifi-

cation; they are classified into different subtypes based

on clinical phenotypes, mode of inheritance and causa-

tive gene mutations.1 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.1 At this time,

canine variants of ARCI have been characterized in the

golden retriever, Jack Russell terrier and American bull-

dog breeds.2–8

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.4,5,7,8 Microscopic

skin lesions include diffuse laminar to compact orthokera-

totic hyperkeratosis with absent-to-minimal epidermal

hyperplasia, perinuclear vacuolation and a lack of dermal

inflammation. Mutations in the PNPLA1 gene, encoding

the patatin-like phospholipase domain-containing protein-

1, have been shown to underlie ARCI in golden retrievers

and rare human individuals.5,9 These mutations are sus-

pected to contribute to defective lamellar granule function

and/or formation, with the end result being a malforma-

tion of the intercellular stratum corneum lipid layer and an

abnormal desquamation.5

Accepted 30 March 20161Present Address: Department of Small Animal Medicine &

Surgery, The University of Georgia, College of Veterinary Medi-

cine, 2200 College Station Road, Athens, GA 30602, USA.

Conflict of interest: No conflicts of interest have been declared

Sources of funding: This study was self-funded

Previous presentation: The information reported herein was

presented at the 2015 Asian Meeting of Animal Medical

Specialties, Kuala Lumpur, Malaysia.

© 2016 ESVD and ACVD, Veterinary Dermatology, 27, 306–e75.306

Vet Dermatol 2016; 27: 306–e75 DOI: 10.1111/vde.12323

In humans, the ideal treatment for ARCI would be to

implement a treatment regimen, either topical and/or sys-

temic, which would specifically correct the causative

genetic defect. In dogs with ichthyoses, one review

paper recommended symptomatic topical therapy using

keratolytic agents and moisturizers/emollients as the

treatment of choice for all variants of this syndrome.10

Regrettably, previous reports of PNPLA1-associated

ARCI in golden retriever dogs did not provide information

on treatment and outcome; therefore, the optimal man-

agement of this disease remains uncharacterized.

In this report we describe the partially successful treat-

ment approach in a golden retriever and poodle cross-

bred dog (hereafter referred to as a “goldendoodle”) with

ARCI due to a PNPLA1 mutation, using oral and topical

fatty acids.

Case report

A six-month-old, intact female, second generation (F2)

goldendoodle dog was referred to the NC State Veteri-

nary Hospital for investigation of excessive generalized

scaling. The owner had obtained the dog from a breeder

when it was 6 weeks of age and abnormal severe scaling

was already seen at that time (Figure 1). The sire, dam

and five littermates were clinically normal and did not

exhibit any visible scaling. Prior treatments of the

affected dog with once or twice daily oral fish oil and

coconut oil (unknown formulation), together with once

weekly moisturizing shampoo (HyLyt, Bayer Animal

Health; Shawnee, KS, USA), provided only limited bene-

fit.

At initial presentation the dog exhibited a severe dif-

fused generalized scaling that was most prominent on

the dorsum and lateral thighs (Figure 2a). Small and large,

white scales, some with embedded hair shafts, were

loosely adherent to the skin. White-to-tan scales were

also prominent on the glabrous ventral abdomen and

medial thighs (Figure 2b). Other abnormalities were not

detected on physical examination.

Three punch skin biopsy samples were taken from the

flank, ventral abdomen and caudal dorsum. Microscopic

skin lesions revealed diffuse, laminated-to-compact

hyperkeratosis with mild epidermal hyperplasia without

dermal inflammation (Figure 3a). Occasional stratum

granulosum keratinocytes had a single small perinuclear

vacuole (Figure 3b).

Altogether, the history, clinical signs and microscopic

findings led to the diagnosis of an ARCI variant resem-

bling that seen in golden retrievers. Genetic testing (Opti-

Gen; Ithaca, NY, USA) performed with a venous blood

sample confirmed, in this goldendoodle dog, the pres-

ence of an homozygotic insertion/deletion mutation in

PNPLA1 identical to that seen in golden retrievers with

ARCI.5

The initial treatment protocol consisted of oral fatty acid

supplementation (Efa-Z, Virbac; Carros, France; two

pumps twice daily) and the addition of a humectant rinse

(Humilac, Virbac) following bathing with the previously

prescribed moisturizing shampoo (HyLyt) once weekly.

Two months later, the dog had shown a mild improve-

ment in clinical signs: whereas the dorsal area still exhib-

ited moderate to severe scaling (Figure 2c), there were

few scales and mild skin wrinkling remaining on the glab-

rous area of the abdomen and medial thighs (Figure 2d).

Weekly applications of a topical essential oil and fatty acid

product (Dermoscent Essential 6 spot-on, LDCA; Castres,

France) subsequently were initiated on the neck between

the shoulders. Five months later, a further improvement

in dorsal scaling was seen. Thirteen months after the ini-

tial presentation, the dog exhibited a marked improve-

ment in clinical signs (Figure 2e and f) with only mild

visible scaling remaining on the dorsum and lateral thighs.

In one instance, the owner reported that scaling had

worsened when topical medications had not been applied

for 2.5 weeks, even though oral fatty acid supplementa-

tion was still given. After all topical therapies were

resumed, skin lesions again improved. Furthermore,

because the owner perceived that there was less scaling

at spot-on application sites, compared to the other parts

of the body, application sites were then rotated every

week.

In order to determine if the humectant (Humilac) was

of help for scaling management, this product was

requested to be discontinued. Two months later, the

owner reported that the skin lesions had not deteriorated

further. At 18 months after the initial presentation, the

disease was well controlled with twice daily oral fatty acid

supplementation and once weekly moisturizing shampoo

(HyLyt) followed by the topical essential oil and fatty acid

combination product applied once weekly (Dermoscent).

Discussion

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 ichthyo-

sis with mutations of PNPLA1 in golden retriever dogs

is autosomal recessive with heterozygous carriers

being asymptomatic.4,5,7,8 Based on the known

Figure 1. Goldendoodle dog with autosomal recessive congenital

ichthyosis (ARCI) at six weeks of age, when excessive generalized

scaling was identified.

© 2016 ESVD and ACVD, Veterinary Dermatology, 27, 306–e75. 307

PNPLA1-associated ARCI in a goldendoodle

phenotypes of relatives of this goldendoodle dog, the

review of a tentative pedigree also suggests an auto-

somal recessive mode of inheritance (Figure 4).

Because purebred poodle dogs have not been

reported to have any PNPLA1-associated ARCI, and

because genetic testing identified the mutation of

PNPLA1 previously found in golden retriever dogs, the

trait was likely inherited from the golden retriever

ancestors with the subject being a homozygote

mutated second-generation goldendoodle dog. Genetic

testing was not performed in either asymptomatic sire

or dam (both first-generation goldendoodles); however,

both dogs were presumed to be heterozygous carri-

ers. Five unaffected littermates of this dog could have

been either normal without mutations or heterozygous

carriers for the trait.

a b

c d

e f

Figure 2. Clinical response of skin lesions in a goldendoodle dog with autosomal recessive congenital ichthyosis (ARCI) before (a, b), after

2 months (c, d) and after 13 months (e, f) of treatment. At treatment onset, large scales exfoliated from the dorsum (a) and white-to-tan scales

with wrinkling were prominent on the glabrous areas of ventral abdomen (b). Two months later, the dorsal skin still exhibited moderate-to-severe

scaling (c) but there was some decrease in the severity of scaling on the glabrous area of the abdomen (d). Thirteen months after starting topical

therapy scaling had improved markedly on the dorsum (e) and abdomen (f).

© 2016 ESVD and ACVD, Veterinary Dermatology, 27, 306–e75.308

Tamamoto-Mochizuki et al.

A long-term combination treatment with oral fatty acid

supplementation and topical therapy appeared beneficial

in this case. It is presumed that the topical therapy was

important for the management of ARCI in this case

because: (i) there was deterioration of skin lesions after

temporary discontinuation of topical essential oil and fatty

acids; and (ii) the added application of topical therapies

resulted in further clinical improvement. This topical

essential oils and fatty acid combination (Dermoscent)

was shown previously to significantly decrease transepi-

dermal water loss in dogs with atopic dermatitis, which

suggests its effect to be that of an emollient.11 Given that

golden retriever dogs affected with ARCI have ultrastruc-

tural and fatty acid keratinocyte metabolism changes,

suggestive of defective intracellular stratum corneum

lipid formation, the application of high concentrations of

topical fatty acids theoretically might be beneficial for

improving clinical signs.5

The clinical signs in this dog gradually improved over

time. Because multiple products had been added to each

other with time, it is difficult to determine which combina-

tion of treatment would be optimal for the management

of this disease. The continued control of scaling after dis-

continuation of the humectant suggests that it is the fatty

acids that were of benefit, perhaps because of their com-

pensation of a putative defect in PNPLA1-induced glyc-

erophospholipid metabolism caused by the PNPLA1

mutation. Why the abdominal skin became less scaly

than the dorsum to which the topicals were applied

remains unexplained.

In conclusion, to the best of the authors’ knowledge

this is the first case report of ARCI due to a PNPLA1

mutation in a goldendoodle dog. Although long-term com-

bination treatment with oral fatty acid supplementation

and topical therapy appeared to be beneficial in this case,

reports of further cases with ichthyosis treated in a simi-

lar way are necessary to determine which subset of ARCI

is likely to benefit from this combination.

References

1. Oji V, Tadini G, Akiyama M et al. Revised nomenclature and clas-

sification of inherited ichthyoses: results of the First Ichthyosis

Consensus Conference in Sor�eze 2009. J Am Acad Dermatol

2010; 63: 607–641.2. Lewis DT, Ford MJ, Kwochka KW. Characterization and manage-

ment of a Jack Russell terrier with congenital ichthyosis. Vet

Dermatol 1998; 9: 111–118.3. Credille KM, Minor JS, Barnhart KF et al. Transglutaminase 1-

deficient recessive lamellar ichthyosis associated with a LINE1

insertion in Jack Russell terrier dogs. Br J Dermatol 2009; 161:

265–272.4. Maudlin EA, Credille KM, Dunstan RW et al. The clinical and

morphologic features of nonepidermolytic ichthyosis in the

golden retriever. Vet Pathol 2008; 45: 174–180.5. Grall A, Guagu�ere E, Planchais S et al. PNPLA1 mutations cause

autosomal recessive congenital ichthyosis in golden retriever

dogs and humans. Nat Genet 2012; 44: 140–147.6. Mauldin EA, Wang P, Evans E et al. Autosomal recessive con-

genital ichthyosis in American bulldogs is associated with

NIPAL4 (ICHTHYIN) deficiency. Vet Pathol 2015; 52: 654–662.7. Cadi�ergues MC, Patel A, Shearer DH et al. Cornification

defect in the golden retriever: clinical, histopathological, ultra-

structural and genetic characterisation. Vet Dermatol 2008;

19: 120–129.

a b

Figure 3. Skin biopsy of a goldendoodle dog with autosomal recessive congenital ichthyosis (ARCI), microscopic skin lesions at presentation. (a)

Diffuse, laminated-to-compact orthokeratotic hyperkeratosis is present with minimal to mild epidermal hyperplasia but without dermal inflamma-

tion. (b) Occasional stratum granulosum keratinocytes have discrete, single, perinuclear vacuoles (arrow). H&E.

Figure 4. Putative pedigree of a goldendoodle dog with autosomal

recessive congenital ichthyosis (ARCI). wild, no mutation of Patatin-

like phospholipase domain containing 1 (PNPLA1); mut, mutation of

PNPLA1; –, unknown mutation of PNPLA1. Asterisk denotes confir-

mation by genetic testing.

© 2016 ESVD and ACVD, Veterinary Dermatology, 27, 306–e75. 309

PNPLA1-associated ARCI in a goldendoodle

8. Guagu�ere E, Bensignor E, K€ury S et al. Clinical, histopathological

and genetic data of ichthyosis in the golden retriever: a prospec-

tive study. J Small Anim Pract 2009; 50: 227–235.9. Fachal L, Rodr�ıguez-Pazos L, Ginarte M et al. Identification of

novel PNPLA1mutation in a Spanish family with autosomal reces-

sive congenital ichthyosis. Br J Dermatol 2014; 170: 980–982.

10. Mauldin EA. Canine ichthyosis and related disorders of cornifica-

tion. Vet Clin North Am Small Anim Pract 2013; 43: 89–97.11. Tretter S, Mueller RS. The influence of topical unsaturated fatty

acids and essential oils on normal and atopic dogs. J Am Anim

Hosp Assoc 2011; 47: 236–240.

R�esum�e

Contexte – Les ichtyoses repr�esentent un syndrome g�en�etiquement et ph�enotypiquement h�et�erog�ene de

cornification �epidermique anormale. Bien que la pr�esentation clinique, les donn�ees histopathologiques et

g�en�etiques des ichtyoses cong�enitales autosomales r�ecessives (ARCI) du golden retriever soient bien

document�ees, la gestion optimale de cette maladie reste ind�efinie.

Objectifs – Dans cet article nous d�ecrivons les effets b�en�efiques des aides gras essentiels oraux et topi-

ques pour la gestion d’un chien crois�e golden retriever-caniche (goldendoodle) avec ARCI due �a une muta-

tion de PNPLA1 (Patatin-like phospholipase domain containing 1).

Cas clinique – Un chien crois�e golden retriever-caniche de la seconde g�en�eration, femelle enti�ere de 6

mois, pr�esent�ee pour un squamosis g�en�eralis�e �evoluant depuis l’age de 6 semaines. L’histopathologie a

montr�e une hyperk�eratose diffuse, stratifi�ee �a compacte avec des k�eratinocytes du stratum ganulosum

pr�esentant occasionnellement une unique petite vacuole p�erinucl�eraire. Les tests g�en�etiques ont r�ev�el�e

une mutation homozygote insertion/d�el�etion du g�ene PNPLA1. Une administration orale d’acides gras

essentiels et des bains hydratants, suivant des shampoings hydratants hebdomadaires, ont r�esult�e en une

am�elioration partielle apr�es deux mois. Une application hebdomadaire d’acides gras essentiels topiques et

d’huiles essentielles a ensuite �et�e ajout�ee. Treize mois apr�es la pr�esentation initiale du chien a montr�e une

am�elioration marqu�ee des signes cliniques. L’arret temporaire du traitement topique a r�esult�e en une

aggravation du squamosis qui s’est de nouveau am�elior�e apr�es r�e-administration de cette association.

Conclusions et importance clinique – A la connaissance des auteurs, ceci est le premier cas d’ARCI avec

mutation PNPLA1 homozygote chez un chien crois�e golden retriever-caniche. L’association �a long terme

d’acides gras essentiels oraux et d’un traitement topique semble etre efficace dans ce cas.

Resumen

Introducci�on – las ictiosis representan un s�ındrome de gen�etica y fenot�ıpicamente heterog�eneo de cornifi-

caci�on anormal de la epidermis. Aunque la presentaci�on cl�ınica, los hallazgos histopatol�ogicos y la causa

gen�etica de la ictiosis cong�enita autos�omica recesiva (ARCI) de los perros de raza Golden Retriever ha sido

investigada, el manejo �optimo de esta enfermedad no est�a bien caracterizado

Objetivos – en este art�ıculo describimos el efecto beneficioso de los �acidos grasos orales y t�opicos para el

manejo de un perro Golden Retriever cruzado con Caniche (Goldendoodle) con ARCI debido a una mutaci�on

de PNPLA-1 (dominio conteniendo fosfolipasa similar a patatina-1)

Descripci�on de caso – una perra de seis meses de edad no esterilizada, segunda generaci�on de cruce

entre Golden Retriever y caniche se present�o con historia de descamaci�on generalizada desde la edad de

seis semanas. El an�alisis histopatol�ogico mostr�o hiperqueratosis difusa lamelar compacta con ocasionales

vacuolas perinucleares en queratinocitos del estrato granuloso. El an�alisis gen�etico revel�o una mutaci�on

inserci�on/deleci�on homozig�otica en el gen PNPLA-1. La administraci�on diaria de �acidos grasos esenciales

v�ıa oral y la aplicaci�on de un ba~no con un humectante, seguido por ba~nos semanales con champ�u humede-

cedor, result�o s�olo en mejora leve tras dos meses. Se a~nadi�o entonces una aplicaci�on semanal t�opica de

un producto con aceites y �acidos grasos esenciales. 13 meses tras la presentaci�on inicial el perro present�o

una marcada mejora de los signos cl�ınicos. La interrupci�on temporal del tratamiento t�opico result�o en

empeoramiento de la descamaci�on, que mejor�o otra vez tras volver a aplicar el tratamiento t�opico.

Conclusi�on e importancia cl�ınica – a nuestro entender este es el primer caso publicado de ARCI con una

mutaci�on homozig�otica para PNPLA-1 en un perro cruzado con Golden Retriever-Caniche. La aplicaci�on

combinada a largo plazo de �acidos grasos esenciales v�ıa oral y terapia t�opica con �acidos grasos fue benefi-

ciosa en este caso.

Zusammenfassung

Hintergrund – Bei der Ichthyose handelt es sich um ein genetisch und ph€anotypisch heterogenes Syn-

drom abnormaler epidermaler Kornifizierung. Obwohl die klinische Pr€asentation, der histopathologische

Befund und die genetischen Ursachen der autosomal rezessiv vererbten Ichthyose (ARCI) der Golden

Retriever gut untersucht ist, gibt es wenige Details €uber die optimale Behandlung dieser Erkrankung.

Ziele – In diesem Artikel beschreiben wir die g€unstige Auswirkung von per os sowie topisch verabreichten

essentiellen Fetts€auren beim Management von Golden Retrievern und Pudelmischlingen (Goldendoodle)

mit ARCI aufgrund einer PNPLA1 (Patatin-€ahnliche Phospholipase Dom€ane mit einer) Mutation.

Fallbericht – Eine sechs Monate alte unkastrierte Golden Retriever/Pudelmischlingsh€undin zweiter Gene-

ration wurde mit einer Anamnese von generalisierten Schuppen seit einem Lebensalter von 6 Wochen

© 2016 ESVD and ACVD, Veterinary Dermatology, 27, 306–e75.310

Tamamoto-Mochizuki et al.

vorgestellt. Die Histopathologie zeigte eine diffuse, gef€acherte bis kompakte Hyperkeratose mit einer einzi-

gen kleinen perinukle€aren Vakuole in einzelnen Keratinozyten des Stratum granulosum. Gentests enth€ull-

ten eine homozygote Insertions-/Deletionsmutation im PNPLA1 Gen. T€agliche Unterst€utzung mit

essentiellen Fetts€auren per os und Rehydrierungslotion nach dem w€ochentlichen feuchtigkeitsspenden-

den Shampoonieren, ergab nach zwei Monaten nur eine geringe Verbesserung. Eine w€ochentliche Applika-

tion von topischen essentiellen €Olen und essentiellen Fetts€aureprodukten wurde hinzugef€ugt. Dreizehn

Monate nach dieser Erstvorstellung zeigte der Hund eine deutliche Verbesserung der klinischen Zeichen.

Durch das vor€ubergehende Absetzen der topischen Therapie verst€arkte sich die Schuppenbildung, welche

nach Wiederaufnahme der Kombinationstherapie wieder weniger wurde.

Schlussfolgerungen und klinische Bedeutung – Nach bestem Wissen der Autoren handelt es sich hier-

bei um den ersten Fall von ARCI mit einer homozygoten PNPLA1 Mutation in einem Golden Retriever/

Pudelmischlingshund. Die Langzeitanwendung der Kombination von essentiellen Fetts€auren und einer

topischen Therapie schien diesem Fall gut zu tun.

要約

背景 – 魚鱗癬は遺伝的および表現的に多様な、異常な表皮角化を示す症候群である。ゴールデンレトリーバー犬

における常染色体劣性遺伝の先天性魚鱗癬(ARCI)の臨床所見、病理組織学的所見ならびに遺伝的原因はよく研究されているが、この疾患の最適な管理法は明らかにされていない。目的 – この報告において、筆者らはPNPLA1(パタチン様ホスホリパーゼドメイン含有1)変異に起因するARCIの、ゴールデンレトリーバーとプードルの交雑種犬(ゴールデンドゥードル)の管理における経口および外用脂肪酸の有益な効果を解説する。症例報告 – 6ヶ月齢、未避妊メス、ゴールデンレトリーバーとプードルの第二世代交雑種犬が生後6週齢から全身の鱗屑の病歴を呈した。病理組織学では、ケラチノサイトの顆粒層に時折核周囲に単数の小型の空胞を伴う、びまん性で層状から密な過角化が認められた。遺伝子検査ではPNPLA1遺伝子における挿入/欠損ホモ接合変異を明らかとなった。連日の経口脂肪酸サプリメント、および週1回の保湿性シャンプーとその後の保湿性リンスは、2ヶ月後に軽度の改善のみを示した。週に1度の外用エッセンシャルオイルおよび脂肪酸製剤を追加した。初診から13ヶ月後、イヌは臨床症状において顕著な改善を示した。一時的な外用療法の中止で鱗屑は悪化したが、この治療の組み合わせを再開することで再び改善した。結論および臨床的な重要性 – 筆者らが知るところによれば、これはゴールデンレトリーバーとプードルの交雑種犬における、PNPLA1ホモ接合変異のARCIの最初の症例報告である。長期的な経口脂肪酸および外用療法の組み合わせがこの症例では有益であったようである。

摘要

背景 – 鱼鳞病为遗传性疾病,是一种表皮异常角化的多样化表现综合征。金毛猎犬患隐形遗传先天性鱼鳞

病,虽然有关的临床表现、组织病理学和遗传基因已有研究,但是该疾病的优化管理仍然不完善。目的 – 这项报道中,一只金毛猎犬与贵宾犬所生繁育的杂交犬,由于PNPLA1突变而患有ARCI,该报道描述口

服和外用脂肪酸对于管理该病的疗效。病例报告 – 一只6个月大、雌性、由金毛猎犬和贵宾犬交配所生幼犬,6周龄开时出现大量鳞屑。组织病理学

表现出弥散、分层或紧密角化过度,并偶见颗粒层角质细胞的细胞核旁出现单一小空泡。检测显示PNPLA1基因上存在纯合基因嵌入/缺失突变。每日口服补充脂肪酸并使用保湿剂漂洗,接着每周使用保湿香波,在两

个月后仅有轻度改善。每周添加外用精油和脂肪酸产品。13个月后犬临床症状有明显改善。暂时性停止外

用药后皮屑加重,重新使用药物后症状再次改善。总结和临床意义 – 据作者所知,这是第一例有关纯合PNPLA1突变导致ARCI的报道,报道动物为金毛巡回犬

和贵宾犬交配所生的杂交犬。长期口服脂肪酸和外部治疗相结合,在此病例中表现出一定效果。

PNPLA1-associated ARCI in a goldendoodle

© 2016 ESVD and ACVD, Veterinary Dermatology, 27, 306–e75. e75