Genetic mutations in Gorlin-Goltz syndrome
A 12-year-old female patient was referred to dental clinic with a chief complaint of swelling on the left side of the upper jaw since 4 months by a local medical practitioner. Patient was concerned about the facial deformity and denied any other associated symptoms. Patient's medical, family, dental and personal history was noncontributory.\nOn general physical examination, the patient was moderately built and nourished, presenting with normal gait and satisfactory vital signs. There were multiple palmar pits brownish black in color present on the palms of both her hands []. There was a diffuse swelling in the left middle third of the face with no secondary changes noted over it. On palpation, there was local rise in temperature; the swelling was tender and soft in consistency. A solitary left submandibular lymph node was palpable, tender, soft in consistency and mobile.\nThere was a swelling in the left buccal vestibule causing vestibular obliteration in region of 22 and 63 extending distally unto 26. Mucosa over the swelling showed no secondary changes. On palpation the swelling was tender and soft in consistency with areas of decortication. Aspiration yielded thin straw-colored fluid.\nBased on the history and clinical findings, a provisional diagnosis of dentigerous cyst in relation to 63 was given and a differential diagnosis of odontogenic keratocyst considered. The patients was subjected to the following radiographic examination. Intraoral periapical radiograph in the region of 22, 63 and 26 showed a well-defined radiolucency with sclerotic borders in the periapical region extending from 22 to 26. The radiolucency was not associated with impacted teeth. The radiograph also showed missing 23, 24, 25. Anterior maxillary occlusal radiograph showed similar well-defined radiolucency in the region of 22, 63, 26 [].\nOrthopantomograph revealed multiple, unilocular well-defined radiolucencies with sclerotic borders located in maxilla and mandible []. The presence of multiple cysts in the jaws, associated with unerupted teeth, raised a suspicion of Gorlin syndrome and other relevant investigations were done. The patient was then evaluated systemically for other anomalies of the skeletal, cardiovascular or central nervous system. Ophthalmologic examination incidentally revealed Bitot spots in both the eyes. An incisional biopsy of the swelling in left side of maxilla was advised. Histopathological examination of specimen revealed stratified squamous parakeratinized epithelium with palisading pattern of columnar cells along with keratin flakes suggestive of odontogenic keratocyst []. Since the criteria of multiple cysts in the jaws (one of them being odontogenic keratocyst), multiple palmar pits, were present, a final diagnosis of Gorlin syndrome was given.