{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T13:36:57Z","timestamp":1773063417754,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T00:00:00Z","timestamp":1549843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Medicine &amp;amp; Sci"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Ichthyoses represent a heterogeneous group of hereditary cornification disorders characterized by generalized scaling of the skin. An autosomal recessive congenital ichthyosis (<jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>) has been described in American Bulldogs and is caused by a variant in the <jats:italic><jats:styled-content style=\"fixed-case\">NIPAL<\/jats:styled-content>4<\/jats:italic> gene encoding for the <jats:styled-content style=\"fixed-case\">ICHTHYIN<\/jats:styled-content> protein. So far, this variant has not been described in other breeds. A 1.5\u2010year\u2010old female pedigreed American Bully was referred for generalized scaling and bad coat quality since adoption at 8\u00a0weeks of age. Clinical examination, cytological and histopathological examination, and <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> testing were performed. Clinical examination revealed a generalized scaling; cytological evaluation using impression with acetate tapes showed a secondary <jats:italic>Malassezia<\/jats:italic> dermatitis. Histopathological examination revealed a moderate to marked, diffuse, compact orthokeratotic hyperkeratosis with the formation of large scales. Few <jats:italic>Malassezia<\/jats:italic> were observed in the <jats:italic>stratum corneum<\/jats:italic> associated with minimal mixed perivascular inflammation and moderate epidermal hyperplasia. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> testing of the dog revealed that he carries two defective alleles of the <jats:italic><jats:styled-content style=\"fixed-case\">NIPAL<\/jats:styled-content>4<\/jats:italic> gene previously described in the American Bulldog. We performed a commercially available breed detection test which, although not specifically testing for \u201cAmerican Bully\u201d signatures, revealed a high probability of American Bulldog <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> 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\u00a0month. Continuous topical treatment was necessary to maintain clinical improvement. To the authors\u2019 knowledge, this is the first description of the deleterious <jats:italic><jats:styled-content style=\"fixed-case\">NIPAL<\/jats:styled-content>4<\/jats:italic> variant in an American Bully as well as the first description of clinical management and follow\u2010up of <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content> in this breed.<\/jats:p><\/jats:sec>","DOI":"10.1002\/vms3.149","type":"journal-article","created":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T11:49:34Z","timestamp":1549885774000},"page":"112-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<i>NIPAL4<\/i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3440-1270","authenticated-orcid":false,"given":"Amaury","family":"Briand","sequence":"first","affiliation":[{"name":"Department of Parasitology, Mycology, Dermatology EA 7380 UPEC Dynamyc Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1820-0006","authenticated-orcid":false,"given":"Noelle","family":"Cochet\u2010Faivre","sequence":"additional","affiliation":[{"name":"Department of Parasitology, Mycology, Dermatology EA 7380 UPEC Dynamyc Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0017-6930","authenticated-orcid":false,"given":"Edouard","family":"Reyes\u2010Gomez","sequence":"additional","affiliation":[{"name":"Anatomical Pathology Unit BioP\u00f4le Alfort Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"},{"name":"U955 \u2013 IMRB Team 10 \u2010 Biology of the neuromuscular system Inserm UPEC Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ambre","family":"Jaraud\u2010Darnault","sequence":"additional","affiliation":[{"name":"U955 \u2013 IMRB Team 10 \u2010 Biology of the neuromuscular system Inserm UPEC Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8573-8335","authenticated-orcid":false,"given":"Laurent","family":"Tiret","sequence":"additional","affiliation":[{"name":"U955 \u2013 IMRB Team 10 \u2010 Biology of the neuromuscular system Inserm UPEC Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8602-1993","authenticated-orcid":false,"given":"Lucie","family":"Chevallier","sequence":"additional","affiliation":[{"name":"U955 \u2013 IMRB Team 10 \u2010 Biology of the neuromuscular system Inserm UPEC Ecole nationale v\u00e9t\u00e9rinaire d'Alfort Maisons\u2010Alfort France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,2,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006651"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0170708"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/vde.12220"},{"key":"e_1_2_10_5_1","volume-title":"A Practical Guide to Canine Dermatology","author":"Credille K.M","year":"2008"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09161.x"},{"key":"e_1_2_10_7_1","unstructured":"FardouetL PinD. 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