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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
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