Genes of Congenital Dermatologic Disorders in Dogs—A Review

This article presents an overview of up-to-date identified genes responsible for congenital canine skin diseases of dogs and the characteristics of these diseases. Congenital skin diseases constitute a specific group of dermatologic disorders that plays an important role in breeding of purebred dogs. They include primary seborrhoea, ichthyosis, hereditary nasal parakeratosis, dermatomyositis, colour dilution alopecia, skin mucinosis, dermoid sinus, lethal acrodermatitis, acral mutilation syndrome, keratoconjunctivitis sicca, ichthyosiform dermatosis, bullous epidermolysis, exfoliative dermal lupus erythematosus, congenital footpad hyperkeratosis and sebaceous adenitis. In the majority of cases, their occurrence is linked to particular breeds. In more than half of these diseases a specific defective gene variant responsible for the disease has been identified. Genetic tests for identification of the relevant defective genes serve as an important tool in the diagnostics of diseases in veterinary practice and in breeding of purebred dogs.

Intramedullary spinal abscess associated with intramedullary dermoid and infected dermal sinus:case report and review of the literature

Intramedullary spinal abscesses are extremely rare. Most occur secondary to cardiopulmonary spread;contiguous origin is less frequent. Few intramedullary spinal abscesses have been reported secondary to dermal sinus tracts. A dermoid sinus is a congenital lesion (closed simple dysraphism) with rare incidence.Dermoid sinuses can ease local invasion and spinal infections (meningitis, intradural extramedullary and intramedullary abscesses), usually with thoracolumbar involvement. Here we describe acase of a 20-month-old boy who presented with fever and refusal to walk 2 days prior to admission. On examination of the lumbar spine, a small sinus with skin stigmata was noted.Neurological evaluation revealed paraparesis more prominent on the left side, reduced tone and reflexes, left leg hypoesthesia,reduced anal tone, and urinary retention.MRI scan demonstrated intramedullary abscess extending from L2 to S1 level. The patient was urgently admitted for drainage of intramedullary abscess and excision of the dermal sinus tract. Proper antibiotic treatment was completed for 6 weeks with gradual improvement and ultimately full ambulation ability.

The congenital sternoclavicular sinus: a single-institution retrospective study of 88 patients

Background Sinus near the sternoclavicular joint was considered as a rare congenital neck abnormality. Though it was reported as a dermoid sinus in some literatures, the embryological origin of the sinus was unclear. This study aimed at reviewing the clinical and histological characteristics and analyzing the possible embryological origin of this malformation in children. Methods The medical records of all patients with congenital sternoclavicular sinus who underwent surgical resection between March 2018 through June 2020 were reviewed retrospectively. The clinical presentations, complications, histological examination, and treatment were analyzed. Results Of the 88 patients with congenital sternoclavicular sinus included, the mean age of surgery was 2.73 ± 1.71 years old. The sinuses occurred on the left side in 73 (83.0%) cases. Sixty-three patients experienced sinus infection and 44 patients underwent incision and drainage before excision. All patients received surgical resection with one patient who recurred after surgery. Histopathological examination showed that the sinuses were lined by squamous epithelium in most patients. However, ciliated epithelium was observed in one patient and salivary glands were detected in two patients. Conclusions The congenital sternoclavicular sinus should be excised promptly to prevent recurrent infection. According to the ciliated epithelium and salivary gland were found in the wall of sinus, it should be viewed as the skin side remnant of the fourth branchial cleft rather than a dermoid cyst/sinus.

The Congenital Sternoclavicular Sinus: a Single-institution Retrospective Study of 88 Patients

Background Sinus near the sternoclavicular joint was considered as a rare congenital neck abnormality. Though it was reported as a dermoid sinus in some literatures, the embryological origin of the sinus was unclear. This study aimed at reviewing the clinical and histological characteristics and analyzing the possible embryological origin of this malformation in children.Methods The medical records of all patients with congenital sternoclavicular sinus who underwent surgical resection between March 2018 through June 2020 were reviewed retrospectively. The clinical presentations, complications, histological examination, and treatment were analyzed.Results Of the 88 patients with congenital sternoclavicular sinus included, the mean age of surgery was 2.73 ± 1.71 years old. The sinuses occurred on the left side in 73 (83.0%) cases. Sixty-three patients experienced sinus infection and 44 patients underwent incision and drainage before excision. All patients received surgical resection with one patient recurred after surgery. Histopathological examination showed that the sinuses were lined by squamous epithelium in most patients. However, ciliated epithelium was observed in one patient and salivary gland was detected in two patients.Conclusions The congenital sternoclavicular sinus should be excised promptly to prevent recurrent infection. According to the ciliated epithelium and salivary gland were found in the wall of sinus, it should be viewed as the skin side remnant of the fourth branchial cleft rather than a dermoid cyst/sinus.

Dermoid sinus in the perirectal fossa of a Siamese cat with involvement of the vaginal wall

A 2.5-year-old spayed female Siamese cat was presented with a recurrent exudative wound in the right perirectal fossa. Clinical examination at presentation revealed a 1 cm long open wound with purulent discharge in the right perirectal fossa but was otherwise unremarkable. A computed tomography contrast-enhanced study showed a tracking sinus which could be traced from the right dorsolateral perianal region right up to the level of the vagina. Surgical exploration was performed from the perirectal region. The intermuscular sinus tract, which formed a cystic structure and connected to the vaginal wall, was en bloc excised. Histopathological examination confirmed the diagnosis of a dermoid sinus in the perirectal fossa with vaginal infiltration. To the authors’ knowledge, this is the first case report in the veterinary literature of the successful surgical management of a dermoid sinus in the perianal region connected to the vaginal wall in a cat.