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Vet Dermatol ; 30(1): 64-e18, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30474267

RESUMO

BACKGROUND: The feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN) has been described; however, the possible underlying developmental defect has not been investigated. OBJECTIVE: To report a case of multiple ILVEN-like lesions in a cat with a genetic variant in the NSDHL gene. ANIMALS: A 2-year-old, female, domestic short hair cat with a history of multiple alopecic, verrucous, hyperpigmented and erythematous skin lesions, following Blaschko's lines on the head, the limbs, the trunk and paw pads. METHODS AND RESULTS: According to the clinical and histopathological findings, a diagnosis of multiple ILVEN-like lesions was made. Genetic investigation revealed a heterozygous missense variant in the X-chromosomal NSDHL gene predicted to lead to a loss-of-function of the NSDHL protein. CONCLUSIONS AND CLINICAL IMPORTANCE: To the best of the authors' knowledge, this is the first case of feline ILVEN-like lesions in which a genetic cause has been proposed. Future studies to establish a causal relationship between NSDHL variants and skin lesions might lead to pathogenesis-directed treatments.


Assuntos
3-Hidroxiesteroide Desidrogenases/genética , Doenças do Gato/genética , Nevo/veterinária , Neoplasias Cutâneas/veterinária , Animais , Doenças do Gato/congênito , Doenças do Gato/patologia , Gatos , Feminino , Genes/genética , Heterozigoto , Mutação de Sentido Incorreto/genética , Nevo/congênito , Nevo/genética , Nevo/patologia , Pele/patologia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
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