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1.
Genes (Basel) ; 15(7)2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-39062633

RESUMO

Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic ectodermal dysplasia in humans, mice, dogs and cattle. We investigated a male cat exhibiting diffuse truncal alopecia with a completely absent undercoat. The cat lacked several teeth, and the remaining teeth had an abnormal conical shape. Whole-genome sequencing revealed a hemizygous missense variant in the EDA gene, XM_011291781.3:c.1042G>A or XP_011290083.1:p.(Ala348Thr). The predicted amino acid exchange is located in the C-terminal TNF signaling domain of the encoded ectodysplasin. The corresponding missense variant in the human EDA gene, p.Ala349Thr, has been reported as a recurring pathogenic variant in several human patients with X-linked hypohidrotic ectodermal dysplasia. The identified feline variant therefore represents the likely cause of the hypohidrotic ectodermal dysplasia in the investigated cat, and the genetic investigation confirmed the suspected clinical diagnosis. This is the first report of an EDA-related hypohidrotic ectodermal dysplasia in cats.


Assuntos
Displasia Ectodérmica Anidrótica Tipo 1 , Ectodisplasinas , Mutação de Sentido Incorreto , Animais , Masculino , Ectodisplasinas/genética , Gatos , Displasia Ectodérmica Anidrótica Tipo 1/genética , Displasia Ectodérmica Anidrótica Tipo 1/veterinária , Displasia Ectodérmica Anidrótica Tipo 1/patologia , Doenças do Gato/genética , Doenças do Gato/patologia , Sequenciamento Completo do Genoma
2.
Front Vet Sci ; 8: 579074, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34026882

RESUMO

Local disturbances of the microbiota are common in dogs with underlying skin conditions. Antiseptic topical products are indicated to control such superficial disorders. The objective of this study was to evaluate the performance of a daily application of pads containing Ophytrium and chlorhexidine digluconate 3% (DOUXO® S3 PYO Pads, Ceva Santé Animale, France) in dogs with focal bacterial and/or Malassezia overgrowth. Eighteen dogs with focal skin dysbiosis were included in the analysis of this prospective, multicentric, field study. Dogs received daily pad applications for 14 days. Bacterial and/or Malassezia counts per microscopic field and a global score of the most affected patch (0-17 scale based on extension, severity, bacterial, and Malassezia cytological scores) were assessed by a veterinarian and pruritus by the owner (Pruritus Visual Analog Scale) on days (D)0, D7, D14. Owner and veterinarian evaluations for performance and satisfaction were recorded. Eleven dogs had primarily cocci overgrowth and seven mostly Malassezia. Mean bacterial and Malassezia counts decreased after 14 days (6.9-1.1; 7.6-1.5, respectively); 88.9% of dogs achieved a ≥70% microbial decrease and had ≤2 bacteria and ≤1 Malassezia per oil field. Mean global score of the most affected patch and pruritus score significantly improved at D14, respectively, from 8.6 to 2.6 and 4.5 to 1.2 (P < 0.05 each, mean improvements of 70.4 and 71.4%, respectively). Global veterinary assessment of the protocol was satisfactory, good, or excellent in 88.9% of cases. Most owners (94.4%) considered the protocol efficacious. Using a pad containing Ophytrium and chlorhexidine digluconate 3% daily for 14 days improved the skin condition and pruritus of dogs with local dysbiosis, resulting in high satisfaction levels for both veterinarians and dog owners.

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