Acantholysis
/ genetics
Animals
Calcium-Transporting ATPases
/ genetics
Darier Disease
/ genetics
Dog Diseases
/ genetics
Dogs
Ear Canal
/ metabolism
Epidermis
/ metabolism
Female
Haploinsufficiency
/ genetics
Heterozygote
Humans
Keratinocytes
/ metabolism
Pemphigus, Benign Familial
/ genetics
Sarcoplasmic Reticulum Calcium-Transporting ATPases
/ genetics
Skin
/ metabolism
Canis lupus familiaris
acantholysis
animal model
calcium
dermatology
desmosome
dog
precision medicine
skin
veterinary medicine
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
28 04 2020
28 04 2020
Historique:
received:
14
04
2020
revised:
27
04
2020
accepted:
27
04
2020
entrez:
2
5
2020
pubmed:
2
5
2020
medline:
18
3
2021
Statut:
epublish
Résumé
A 4-month-old female Irish Terrier presented with a well demarcated ulcerative and crusting lesion in the right ear canal. Histological analysis revealed epidermal hyperplasia with severe acantholysis affecting all suprabasal layers of the epidermis, which prompted a presumptive diagnosis of canine Darier disease. The lesion was successfully treated by repeated laser ablation of the affected epidermis. Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications. Histology of the excised tissue revealed multiple infundibular cysts extending from the upper dermis to the subcutis. The cysts were lined by squamous epithelium, which presented with abundant acantholysis of suprabasal keratinocytes. Infundibular cysts represent a novel finding not previously reported in Darier patients. Whole genome sequencing of the affected dog was performed, and the functional candidate genes for Darier disease (
Identifiants
pubmed: 32354065
pii: genes11050481
doi: 10.3390/genes11050481
pmc: PMC7291265
pii:
doi:
Substances chimiques
Sarcoplasmic Reticulum Calcium-Transporting ATPases
EC 3.6.3.8
ATP2A2 protein, human
EC 7.2.2.10
ATP2C1 protein, human
EC 7.2.2.10
Calcium-Transporting ATPases
EC 7.2.2.10
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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