|Year : 2015 | Volume
| Issue : 1 | Page : 41-43
A Classic Case of Basal Cell Nevus Syndrome
Dattaprasad Dadhe, Sudhir Narayan Khandale, Ramank Ravi Mathur, Alka Sherkhane
Department of Oral and Maxillofacial Surgery, Sinhgad Dental College and Hospital, Pune, Maharashtra, India
|Date of Web Publication||19-Oct-2015|
Sudhir Narayan Khandale
A/P-Nira Narsinhpur, Indapur, Pune - 413 211, Maharashtra
Source of Support: None, Conflict of Interest: None
The basal cell nevus syndrome is an autosomal dominant inherited condition characterized mainly by basal cell carcinomas, multiple keratinizing odontogenic tumors, and other systemic anomalies. As these manifestations do not alter the patient's lifestyle, most of the cases are diagnosed through oral abnormalities. A classic case of basal cell nevus syndrome fulfilling almost all the major and minor criteria has been reported here.
Keywords: Basal cell nevus syndrome, Gorlin and Goltz syndrome, Gorlin syndrome
|How to cite this article:|
Dadhe D, Khandale SN, Mathur RR, Sherkhane A. A Classic Case of Basal Cell Nevus Syndrome. J Dent Allied Sci 2015;4:41-3
|How to cite this URL:|
Dadhe D, Khandale SN, Mathur RR, Sherkhane A. A Classic Case of Basal Cell Nevus Syndrome. J Dent Allied Sci [serial online] 2015 [cited 2019 Jun 15];4:41-3. Available from: http://www.jdas.in/text.asp?2015/4/1/41/167542
| Introduction|| |
The basal cell nevus syndrome was published in 1960 by Gorlin and Gotz. It has been found in all ethnic groups equally affecting males and females. It is defined as the syndrome presenting the triad of multiple keratinizing odontogenic tumors, basal cell carcinoma (BCC) along with skeletal abnormalities.  It is unique because it faces diagnostic problems in cases of incomplete penetration and successively emerging tumors. The prevalence rate is 1 in 60,000 of this syndrome.
| Case Report|| |
A 48 years male reported the Department of Oral and Maxillofacial Surgery, Sinhgad Dental College and Hospital, Pune with a chief complaint of swelling on the right side of the lower jaw since 2 months. The patient also complained of mild, continuous pain in the same region, which was getting relieved by nonsteroidal anti-inflammatory drugs. The swelling was slow in growth and pain started before the 1 week.
There was no significant medical, personal, family history except few dental extractions 6 years ago.
Patient was averagely built, well-nourished with a normal gait and vital signs were within normal limits. Local examination revealed frontal bossing (occipito-frontal circumferential diameter of the head-60.2 cm), hypertelorism (inter-canthal distance-39.8 mm), and prognathic mandible. There was an ulcerative lesion present on the right pinna of the ear which was round, 2 cm in diameter with everted margins and necrotic base [Figure 1]. A discrete swelling is present in the lower right gingivo-buccal sulcus extending from 44 to 48 obliterating the vestibule. The overlying mucosa appeared normal and smooth. Adjacent teeth were firm and non-tender. On palpation, the swelling was firm, non-fluctuant, non-compressible, and tender. A volume of 7 ml straw colored fluid aspirated and sent for examination. The rest of the mucous membrane appeared normal. Regional lymph nodes were nonpalpable.
|Figure 1: Ulcerative lesion present on the right pinna of ear which was round, 2 cm in diameter with everted margins and necrotic base|
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Following radiographs were made:
- Orthopantomogram (OPG).
- Plain computed tomography (CT) scan of maxilla and mandible.
- Chest X-ray.
Multiple, well-defined radiolucent lesions with radio-opaque border were seen in the body of mandible bilaterally and in the anterior maxilla. OPG also showed a deep impacted 38 with enlarged follicular space [Figure 2]. CT scan showed calcified falx cerebri and bridging of sella [Figure 3] and [Figure 4]. Chest X-ray exhibits bifid rib [Figure 5].
|Figure 2: Multiple, well-defined radiolucent lesions with radio-opaque border were seen in the body of mandible bilaterally and in the anterior maxilla with impacted 38|
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|Figure 3: Computed tomography scan showed calcified falx cerebri and bridging of sella|
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|Figure 4: Computed tomography scan - Axial view showed calcified falx cerebri and bridging of sella|
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Considering these clinical and radiographic features, a provisional diagnosis of basal cell nevus syndrome was made, and an incisional biopsy was planned.
An infra-bony biopsy revealed a fragile lining, which showed corrugated, para-keratinized stratified squamous cystic epithelium of varying thickness (6-15 layers thick). Epithelial connective tissue interface was flat, and the epithelium was separated from underlying connective tissue [Figure 6].
|Figure 6: Histopathology confirmed the diagnosis of basal cell nevus syndrome (×10)|
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Thus, histopathology confirmed the clinical diagnosis of the basal cell nevus syndrome.
After the necessary blood investigations, the patient underwent wide local excision of the ulcer on pinna and the enucleation of the keratinizing odontogenic tumors in maxilla and mandible. The patient also referred to the genetic counselor for the family counseling.
| Discussion|| |
Basal cell nevus syndrome is an autosomal dominant disorder characterized by multiple BCCs, keratinizing odontogenic tumors, bifid ribs, calcification of the falx,  etc. the clinician must be alerted to the possibility of this syndrome when more than one keratinizing odontogenic tumor is found in the jaws or when a young individual develops BCCs.  Evans et al. and further by Kimonis et al. in 1997 described the diagnostic criteria for nevoid BCC as the presence of any two major or one major and two minor criteria as described below:
- Positive family history of nevoid BCC.
- More than two BCC or one BCC at younger than 30 years of age or more than 10 basal cell nevi. 
- Any keratinizing odontogenic tumor or polyostotic bone cyst.
- Three or more palmar or plantar pits.
- Ectopic calcification
- Falx cerebri calcification.
- Congenital skeletal anomaly, bifid, fused, splayed, missing or bifid rib, wedged or fused vertebra. 
- Occipital - frontal circumference more than 97%.
- Cardiac or ovarian fibroma.
- Lymphomesentric cysts.
- Congenital malformations such as cleft lip or palate, polydactylism or eye anomaly (cataract, coloboma, microphthalmus).
In our case two major (keratinizing odontogenic tumor, and falx cerebri calcification) and three minor (increased occipitofrontal circumference, congenital malformations, bifid rib) criteria were met which were indicative of basal cell nevus syndrome.
The treatment should focus on the enucleation of the jaw tumors and surgical excision of the skin lesion, which is proven effective. Many of the other syndrome related abnormalities such as plantar pits, lip pits are pertinent only to the diagnosis and do not require therapy. However, abnormalities those can pose a further risk to the individual such as spina bifida, central nervous system tumors, and kyphoscoliosis need to be referred to other specialists. Genetic counseling is also recommended to alleviate the sense of guilt, suspicion, and psychological trauma. 
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960;262:908-12.
Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: A review of the literature. Int J Oral Maxillofac Surg 2004;33:117-24.
Rayner CR, Towers JF, Wilson JS. What is Gorlin′s syndrome? The diagnosis and management of the basal cell nevus syndrome based on a study of thirty-seven patients. Br J Plast 1977;30:62-7.
Lo Muzio L, Nocini P, Bucci P, Pannone G, Consolo U, Procaccini M. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc 1999;130:669-74.
Marx RE, Stern D. TB: Oral & Maxillofacial Pathology: A Rationale for Diagnosis and Treatment. Quintessence Publishing Co, Inc; Chicago, London 2012.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]