Gorlin-Goltz syndrome case report maxillofacial surgery.pptx

Case presentation in maxillofacial surgery

1. Gorlin-Goltz syndrome a presentation by Dr. Abhijeet Kamble Junior Resident ll CASE REPORT

2. INTRODUCTION Gorlin-Goltz syndrome (GGS) is an rare, multisystemic disease with an autosomal dominant trait. This syndrome has been termed with several names such as, basal cell nevus syndrome, GGS, nevoid basal cell carcinoma syndrome (NBCCS), multiple basal cell carcinoma (BCC) syndrome, multiple basalioma syndrome, jaw cyst basal cell tumor skeletal anomalies syndrome, jaw cyst bifid rib basal cell nevus syndrome, nevoid basalioma , odontogenic keratocysts skeletal anomalies syndrome and fifth phacomatosis . 2

3. Case History A female patient aged 17 years reported to deptt of maxillofacial and oral surgery with a Chief Complaint of pain and pus discharge from her right and left upper and lower jaw region since 6 years. 3

4. HOPI The patient was apparently well _ 5 years back, when she experienced pain and swelling in her upper right front tooth region. For this the patient visited a government hospital at Rampur , Khaneri where in pus was drained and tooth extraction was done and medications were prescribed. Following this patient experienced some symptomatic relief. Soon after the patient again experienced pain and pus discharge. 4

5. GENERAL EXAMINATION GENERAL PHYSICAL EXAMINATION 5

6. GENERAL EXAMINATION CNS CVS RR 6

7. Extra Oral EXAMINATION 7 Face apparently Asymmetrical Diffuse swelling+ measuring around 2.5x3cm evident over lower 1/3 rd of the face above the inferior border of mandible Swelling is hard in consistency, non tender on palpation with skin overlying swelling normal in color to that of the adjacent tissues.

8. EXTRA ORAL EXAMINATION Numerous palmar pits Physical examination revealed normal head circumference. No other anomalies of the skeletal, cardiovascular, or central nervous system were present. Palmar pits were brown coloured and measuring 1-3 mm in diameter No frontal bossing, depressed nasal bridge, hypertelorism and mandibular prognathism seen. 8

9. INTRA ORAL EXAMINATION 1 Swelling evident Wrt right upper vestibular region SWELLING + Firm swelling+ wrt lower posterior buccal sulcus region 2 PARTIALLY IMPACTED 37 3 missing Wrt 13, 27 1 2 9

10. INVESTIGATIONS NCCT HEAD + FACE HISTOPATH Chest radiograph showing the presence of a bifid rib on the right side Multiple calcific foci along interhemisphere fissure Photomicrograph showing a cystic lumen lined by corrugated, parakeratinised stratified squamous epithelium of 6-8 cell thickness. The epithelium is thrown into folds, with basal palisading nuclei and tomb-stone appearance PA CHEST Photomicrograph showing cystic lumen lined by parakeratinised stratified squamous epithelium of 6 to 8 layer thickness showing epithelial connective tissue separation. 10

11. Owing to the presence of multiple cysts like lesions in the jaw, GGS was suspected and further investigations were carried out OPG Orthopantomograph revealing ectopic teeth present on both sides of the maxilla and on the Left side of the mandible, displaced by cysts IOPA IOPA PA MANDIBLE ectopic teeth present on both sides of the maxilla and on the LEFT side of the mandible, displaced by cysts NCCT FACE 3D CT 11

12. DIAGNOSIS MULTIPLE AMELOBLASTOMA Keratocystic Odontogenic cyst ? ? ? Our patient had three major features, namely Palmar pits, multiple OKCs in the jaw and lamellar calcification of the falx cerebri 12

13. Treatment Planning SURGICAL PLANNING The cyst enucleation was done under general anesthesia via intraoral approach. After the cystic lesions enucleated, large areas of bone loss were seen and the displaced permanent teeth were visible on the floor of the cystic cavity . The enucleated cystic lining was sent for histopathological examination. Carnoy’s solution was then applied using cotton rolls for a period of 5 min. The excess solution was then irrigated using saline and the cavity was packed with bismuth iodine paraffin paste. The pack was removed after 7 days and regular irrigation of the cavity was done. 13

14. INTRA OPERATIVE PHOTOGRAPHS As bone regeneration in children is faster, bone grafts were not used. All three lesions were sectioned and studied using hematoxylin and eosin stains All three lesions were diagnosed as odontogenic keratocysts . 14

15. POST OPERATIVE RADIOGRAPHS 15

16. CONCLUSION The GGS is a well-known syndrome with a variety of findings in and outside the head and neck region. The OKC is the most common manifestation of this syndrome. Early diagnosis of this syndrome is important to reduce the associated complications, which are life-threatening and also to provide genetic counselling to the parents. 16

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