A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a congenital syndrome of mammals affecting organs and tissues of ectodermal origin characterized by absence or hypoplasia of hair, teeth, and eccrine glands. The disorder has been reported in several species, including humans, mice, dogs and cattle, associated with variants in genes affecting the ectodysplasin pathway, including the X-linked ectodysplasin A (EDA) gene. Until now, nine pathogenic variants have been found in the bovine EDA gene. Here we report a novel variant in EDA in a crossbreed male Belgian Blue calf with HED, and provide an overview of the phenotypic and allelic heterogeneity of EDA-related forms of HED in cattle. CASE PRESENTATION: A 45-day-old male crossbreed British Blue calf was referred with congenital hypotrichosis, oligodontia and omphalitis. On histopathological examination of the nasal planum, nasolabial glands and ducts were not observed. The density of hair follicles was low, and they were small, with a predominance of telogen-phase hairs, and some serocellular crusts. The phenotype of the calf resembled that of HED. Whole-genome sequencing (WGS) was performed and revealed a 21,899 base-pair deletion encompassing the coding exon 2 of EDA, predicted to result in an altered transcript and aberrant protein. CONCLUSIONS: The clinicopathological and genetic findings were consistent with a case of X-linked HED. A very similar EDA deletion has been previously reported in a family of Holstein cattle with HED. The newly identified hemizygous EDA loss-of-function variant is certainly pathogenic and therefore is the genetic cause for the observed phenotype. This case report provides an additional example of the potential of WGS-based precise diagnostics in livestock species such as cattle to increase the diagnostic yield in rare diseases.

Total laryngectomy in a cat with a laryngeal peripheral nerve sheath tumor.

OBJECTIVE: To report the surgical technique and outcome of total laryngectomy in a single clinical case. STUDY DESIGN: Case report. ANIMAL: A 5-year-old female spayed domestic shorthair cat. METHODS: A cat presented for acute, severe respiratory distress caused by an invasive laryngeal mass. Incisional biopsy was indicative of sarcoma. Computed tomography of head, neck, and thorax was performed revealing no evidence of metastasis. A total laryngectomy and permanent tracheostomy were performed, and the cat could breathe without difficulties immediately postoperatively. Histopathology confirmed a laryngeal low-grade peripheral nerve sheath tumor (PNST). RESULTS: Surgical margins were free of tumor cells. Surgical revision of the tracheostomy stoma due to obstructive granulation tissue was necessary 24 days after the initial surgery. Nine days after revision surgery, the cat was discharged from the hospital. No evidence of local recurrence or metastasis was detected on repeat computed tomography of the head, neck, and thorax at 6 months, nor on chest radiographs at 12 months postoperatively. At the time of writing (13 months postoperatively), the cat is still alive with a good quality of life. CONCLUSION: Total laryngectomy with permanent tracheostomy allowed the complete removal of an obstructive laryngeal PNST and provided a good quality of life in a cat. CLINICAL SIGNIFICANCE: To the authors' knowledge, this case report represents the first detailed description of the surgical procedure and clinical outcome for a total laryngectomy in a cat.