A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review

Background Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies. FOXC1 and PITX2 genes play important roles in the development of ARS. Case presentation The present report describes a 7-year-old boy with iris dysplasia, displaced pupils, and congenital glaucoma in both eyes. The patient presented with a congenital atrial septal defect and sublingual cyst. The patient’s family has no clinical manifestations. Next generation sequencing identified a pathogenic heterozygous missense variant in FOXC1 gene (NM_001453:c. 246C>A, p. S82R) in the patient. Sanger sequencing confirmed this result, and this mutation was not detected in the other three family members. Conclusion To the best of our knowledge, the results of our study reveal a novel mutation in the FOXC1 gene associated with ARS.

Ayurvedic Management of Sublingual Cyst: A Case Study

Ayurvedic Acharyas have mentioned so many Mukharaogas (diseases of the oral cavity). Among these Jihwagata rogas (diseases of the tongue) are described separately. Sushruta and Vagbhatta have mentioned five Jihwagata rogas. Upajihwika described by Sushruta and Adhijihwa described by Vagbhatta represent the cystic lesions on the floor of the mouth. Modern science describes a few diseases in which the patient presents with cystic swelling on the floor of mouth. Mucocele is a cystic lesion or a cavity filled with mucus. They are found on any mucosal surface where underlying accessory glands are present. Mucoceles are commonly found in the lower lip and are very rarely found on the tongue. Cystic lesions or mucoceles on the ventral aspect of the tongue are less frequent. Many modern treatment modalities as surgical excision, cryosurgery and electro-cautery are the only choice of treatment to completely remove the lesion and reduce the chances of recurrence. Herewith we report a case diagnosed as Adhijihwa according to Ayurveda. Ayurvedic internal medicines have provided promising results in reducing the cyst completely without causing any adverse effects within two months. Till this date there is no recurrence of the disease. Ayurvedic treatment helped in complete management without any surgical procedures.

Lingual Cyct

Epidermoid cysts encountered throughout the body, only 7% occurs in the head and neck area, with the oral cavity accounting for only 1.6%. Intraoral this benign slow growing and painless entity is usually located in the submandibular, sublingual and sub mental region. They can cause symptoms of dysphagia and dyspnea and have a malignant transformation potential. Surgical excision is the treatment of choice. Described here is a case of gigantic sublingual cyst.