Gorlin-Goltz syndrome – A case Report

Abstract

Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report a case of young female with multiple odontogenic keratocysts, high arched palate, euryopia, palmer pits, solitary, pigmented nevus , areas of hyper-pigmentation in the upper eyelid of left eye, dorsal surface of hands, calcified diaphragma sellae, right 5 th bifid rib & extensive bilamellar calcifications of the falx cerebri. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. Keywords - bifid rib, calcification, Gorlin-Goltz syndrome, OKC, palmer pits. I. Introduction Gorlin-Goltz syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a rare hereditary disorder. It is also called as the fifth phakomatosis due to the presence of multiple cutaneous, skeletal, ophthalmic and neurological abnormalities. Patients have multiple manifestations that include basal cell carcinoma, odontogenic cysts, skeletal anomalies, prognathism, calcification of tentorium and falx. These patients are predisposed to various anomalies and neoplasms. (1,2) We are discussing here the possibility that the current case is an expression of NBCCS and are briefly reviewing the features of the Gorlin-Goltz syndrome. Our case highlights the importance of the awareness of this rare syndrome especially in young people without any skin lesions. We have seen that it is useful to keep in mind the existence of the syndrome and recognize the presence of some major criteria (odontogenic cysts of the jaw or calcifications of falx cerebri and tentorium) as these are easily recognizable in CT scan of the head and neck thus establishing the diagnosis, and increasing the chances for better overall survival rates. II. CASE REPORT A young patient came to our Department of Oral Medicine & Radiology with a complaint of slowly growing bilateral facial swelling since one year. She gave history of a large sized, unilateral facial swelling of the left side 12 years back and subsequent surgical treatment of the left mandibular tumor under general anesthesia. Excision of the tumor with drainage of pus had done on the left side of mandible. Since last one year, the swellings on both sides had spontaneously developed. The swelling on right side had grown very slowly over a period of last one year and attained the present size while the swelling on left side was observed since 3 months. Patient gave history of dull pain which was localized to the sites of swelling, which preceded and lasted for 10-15 days after which there had been no such episode. Since then, patient gave history of restricted mouth opening associated with onset of swelling. Patient also gave history of intermittent intra-oral yellowish, red discharge from the left side mucosa, leaving behind a metallic taste for 5-7 days. Patient neither gave history of swelling appearing elsewhere in the body nor other changes such as ulcerations, inflammation, paraesthesia. There was no evidence of loss of body weight associated with the appearance of swelling. She gave history of irregular & painful menstrual cycles. Otherwise there was no relevant medical history. Patient was not addicted to any deleterious habits. There was no relevant family history of similar and other types of illnesses.