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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 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.

Zystische Raumforderungen (zRF) im Kopf-Hals-Bereich (KHB) sind relativ haufig. Ihre komplette operative Entfernung ist v. a. bei ausgedehnten Befunden und Kontakt zu neurovaskularen Strukturen mit verschiedenen Komplikationen verbunden. Eine Alternative zur chirurgischen Resektion stellt in ausgewahlten Fallen die Sklerosierung mit OK-432 dar. Die Erfolgsrate bei lymphatischen Malformationen liegt durchschnittlich bei 60%. Nebenwirkungen treten selten auf. Die Therapie ist minimal invasiv, einfach, ambulant und damit kostengunstig, meist ohne Allgemeinanasthesie, durchfuhrbar. Nervenlasionen oder kosmetisch storende Narben sind nicht beschrieben. Wird eine konsekutive Operation erforderlich, ist sie ohne zusatzliche Schwierigkeiten durchfuhrbar. Der Nachteil besteht in wiederholten Injektionen bei ausbleibender Regredienz des Befundes. Selten kann sich ein Abszess bilden, der einer chirurgischen Therapie bedarf. Vor der Sklerotherapie ist zytologisch ein Malignom auszuschliesen. Die intrazystische Injektion von OK-432 ist eine effektive Methode zur Behandlung von zRF im KHB.

F m imple marsupialization or unroofing, the oldest and ost widely reported method of surgical manageent of oral ranula, has fallen into disfavor primarily ecause of the excessive number of recurrences (aproximately 60% to 90%). As a consequence, Catone l al and Bridger et al recommended that the primary reatment of all ranulas, regardless of size, should be ublingual gland excision. At times, this recommendaion is more severe than appropriate (Fig 1). There are several reasons why this recommended ethod of treatment requires reconsideration. The erm “ranula” is often loosely applied to any cyst-like welling in the oral floor. Some of these lesions are nrelated to the body of the sublingual gland and herefore its removal would be a mistake. There are ucoceles arising from the mucus-secreting incisal land in the anterior floor of the mouth (Fig 2), retenion cysts at Wharton’s duct orifice (Fig 3), and single r multiple retention cysts involving the openings of he ducts of Rivinus (Fig 4). These superficial cystike masses are readily differentiated from those rising from the depths of the sublingual gland ecause their size ( 0.5 to 1.5 cm) is significantly maller compared with those arising from the gland 1.5 to 3 cm) (Fig 5). Because of their shallow haracter, an unroofing procedure will result in uccess with minimal if any incidence of recurence. Crysdale et al appear to have had a sounder ut still exaggerated recommendation when they uggested that lesions larger than 1 cm should be reated with gland removal. No one could argue that when dealing with mucocees arising from the deeper areas of the sublingual gland Fig 6), the standard marsupialization technique is not he answer. It has no foundation for success from an

Meyer divided the cysts of the floor of the m into 3 groups Histologically: epidermoid, dermoid, and teratoid. Although dermoid cysts represent a separate entity, the term “dermoid” is generally used to indicate all 3 categories. Anatomically, 3 different types of dermoid cysts can be distinguished as median genioglossal (sublingual), median geniohyoid (submental), and lateral, according to the anatomic relationship between the cyst and the muscles of the floor of the mouth. Dermoid cysts generally present as slowly and progressively growing lesions, and even if they are congenital, a diagnosis is normally made in the second or third decade of life. 3 The treatment for dermoid cysts a surgical excision, which can be intraoral or extraoral according to the location and size of the mass. We report a case of a 3-month-old infant with 2 dermoid cysts of the sublingual and submental region. The lesions were surgically removed using the intraoral and extraoral approaches. Multiple dermoid cysts in an infant are extremely uncommon and the purpose of this paper is to report this rare presentation.

A term male baby weighing 3000 g was delivered by elective cesarean section with antenatal diagnosis of mass in the oral cavity. The ex utero intrapartum treatment was performed. The magnetic resonance imaging of head and neck delineated the mass. The mass was excised and histopathology of the specimen suggested sublingual cyst. Postoperatively, he did well and got discharged home safe on full feeds.

We report the case of a 40-year-old woman with a submandibular sialocele (diagnosed by ultrasonography and magnetic resonance sialography) after sialoadenectomy for sialolithiasis. Type A botulinum toxin was injected percutaneously under colour Doppler ultrasonographic guidance into the sialocele and the residual salivary gland. Five months later the submandibular swelling had gone, and we gave a second injection of botulinum toxin to block any residual secretory activity. There were no side effects. This is, as far as we know, the first published report of the use of botulinum toxin to treat an iatrogenic submandibular sialocele.

A rare case of gastric duplication cyst of tongue is reported.

A ranula is an extravasational cyst arising from the sublingual gland. The "cyst" cavity does not have an epithelial lining, and because of this is notoriously difficult to eliminate. Usual treatment requires complete excision of the sublingual gland, exteriorizing the gland through establishment of a secondary ductal structure by placement of a long-term indwelling catheter, or packing, all requiring patient compliance. Unroofing alone is often followed by recurrence via resealing or closure with formation of a new roof. The accompanying scarring and damage to additional ducts may also result in recurrence. Combining unroofing with a technique that would prevent resealing of the remaining portion, scarify the base of the ranula to eliminate residual glandular acini, and be more comfortable and non-interfering with the daily activity of the patient, is an acceptable object of treatment of a ranula. The use of a water-based laser system to accomplish these goals appears to be a desirable and simple method.

The presence of noncaseating granulomas in salivary tissue is a specific feature of sarcoidosis. We document the case of a healthy woman who presented with a sarcoid ranula of the sublingual salivary gland without any other manifestations of the disease. This sarcoid ranula subsequently progressed to symptomatic widespread sarcoidosis in a span of 7 months. An asymptomatic sarcoid ranula may thus possibly represent a precursor to widespread sarcoidosis.

A carbon dioxide laser in a defocused beam was used to vaporize four ranulas and four were treated by a combination of focused beam excision of the dome and vaporization of the wall and base. There was no recurrence in any patient at 6 months and no complications were noted.

A case is reported of a papillary cystadenocarcinoma of the sublingual gland which presented as a ranula. This is both rare in site and mode of presentation.

The conventional treatment of ranula is surgical procedure. We report an innovative method for ranula by using botulinum toxin type A on 3 patients. All 3 cases of ranula resolved after this minimally invasive therapy. The treatment complication was minimal.

We present a case of a child with an intralingual ranula in whom magnetic resonance clearly defined the extent of the lesion and suggested its cystic nature

A case report of a 36-year-old man with a plunging ranula of 15 years' duration, in which squamous cell carcinoma arose from the cyst wall, is presented. Pathogenesis and treatment of ranulas is briefly discussed.

A sublingual teratoid cyst was excised without complication from a 4-month-old infant. Teratoid cysts of the mouth are rare, and generally diagnosed in adults. The differential diagnosis and approach to sublingual lesions in the infant are reviewed.

Ce rapport decrit un cas de grenouillette plongeante et les observations radio-cliniques operatoires et histopathologiques dans le but d'apporter de nouvelles informations sur les aspects de l'evolution naturelle de cette lesion qui sont encore relativement obscurs

A case in which a large sublingual cyst produced both intraoral and extraoral swellings is reported. The cyst was successfully treated by a modified marsupialization procedure and removal of the involved sublingual glands. This procedure appears to be indicated when deeply located cysts with extremely friable linings are approachable intraorally.

The origin of a ranula is due to obliteration of a minor duct of the sublingual gland. The main excretory duct remains patent.