|Year : 2021 | Volume
| Issue : 2 | Page : 302-305
Basal cell nevus syndrome
Anjali Ravi1, Hannah Maryam Mohiddin1, Bhargabi Paul Majumder2, Vishal S Nair1, YR Girish1, Prasanna Kumar Rao1, Deepak Pai2, Raghavendra Kini1, Nitin Gonsalves3
1 Department of Oral Medicine and Radiology, A. J. Institute of Dental Sciences, Mangaluru, Karnataka, India
2 Department of Oral and Maxillofacial Surgery, A. J. Institute of Dental Sciences, Mangaluru, Karnataka, India
3 Department of Oral Pathology, A. J. Institute of Dental Sciences, Mangaluru, Karnataka, India
|Date of Submission||01-Aug-2021|
|Date of Decision||23-Sep-2021|
|Date of Acceptance||30-Sep-2021|
|Date of Web Publication||29-Dec-2021|
Dr. Prasanna Kumar Rao
Department of Oral Medicine and Radiology, A. J. Institute of Dental Sciences, NH 66, Kuntikana, Mangaluru - 575 004, Karnataka
Source of Support: None, Conflict of Interest: None
Gorlin-Goltz syndrome (GGS) is a hereditary condition; it is transmitted as an autosomal dominant trait and characterized by a wide range of developmental abnormalities and a tendency to neoplasm. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, and treatment modalities.
Keywords: Autosomal dominant, Gorlin-Goltz, multilocular cyst
|How to cite this article:|
Ravi A, Mohiddin HM, Majumder BP, Nair VS, Girish Y R, Rao PK, Pai D, Kini R, Gonsalves N. Basal cell nevus syndrome. Arch Med Health Sci 2021;9:302-5
|How to cite this URL:|
Ravi A, Mohiddin HM, Majumder BP, Nair VS, Girish Y R, Rao PK, Pai D, Kini R, Gonsalves N. Basal cell nevus syndrome. Arch Med Health Sci [serial online] 2021 [cited 2022 Jan 24];9:302-5. Available from: https://www.amhsjournal.org/text.asp?2021/9/2/302/334006
| Introduction|| |
Gorlin-Goltz syndrome (GGS) was first reported in 1894 by Jarisch and White in a patient with multiple basal cell carcinomas, scoliosis, and learning disability. Binkley and Johnson in 1951 and Howell and Caro in 1959 suggested a relationship between basal cell epitheliomas and developmental malformations. It was delineated only in 1960 by Robert James Gorlin and William Goltz.,,
Currently, this disorder, resulting from mutations in the PCTH1 gene, is called the nevoid basal cell carcinoma syndrome and is an infrequent multisystem disease with an autosomal dominant trait, with a complete penetrance and variable expressivity, though sporadic cases have been described., GGS shows a predisposition to neoplasms and other developmental abnormalities. The estimated prevalence varies from 1 in 57,000 to 1 in 256,000 cases among various studies, with a male-to-female ratio of 1:1. GGS is characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies. Here, we report a case of Gorlin-Goltz in a 42-year-old male patient.
| Case Report|| |
A medically fit 42-year-old male patient reported to our dental outpatient department with the chief complaint of pain in the lower right back tooth region and swelling on the right lower third of the face for the past 5 months. The swelling gradually increased to the present size. The pain was sudden in onset, intermittent, dull-aching, nonradiating type, aggravated at night and relieved on its own. 15 days back, the patient was taken to the government hospital and then referred him to the higher center for further evaluation and needful. Medical and dental history of the patient was insignificant. The patient has a habit of ghutka chewing, 5–6 packets per day, for the past 6 years. On general physical examination, on inspection, multiple macules and patches were seen on the chest region,xiphisternum and abdomen which measured 2.5 × 2.5cm, 6cm × 6cm and 1cm × 1cm respectively. The macules were brownish in color, nonscrpable and unraised. On palpation, lesions were nontender and not scrapable [Figure 1].
|Figure 1: Multiple macules and patches seen on the chest region, abdomen, and face region|
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On extraoral examination, mid-facial asymmetry was seen. The swelling extends superiorly up to the line joining the tragus and the angle of the mouth, inferiorly 1 cm below the lower border of the mandible, laterally 1 cm from the outer canthus of the eye, and medially 1 cm below the lower border of the lips. The skin over the swelling is normal and smooth. Multiple melanotic macules seen on the infraorbital, malar, and forehead regions, which were brownish-black measuring approximately 1 cm × 1 cm which was nontender, nonscrapable, and unraised on palpation [Figure 1]. On palpation, swelling showed local rise in temperature, nontender, and firm in consistency. There is no loss of sensation. Right submandibular lymph node is palpable, approximately 1.5 cm × 1 cm in size, firm in consistency, mobile, and tender. On intraoral examination, swelling was noticed on the right buccal vestibule extending from 44 to 48 region. The swelling was soft in consistency and nontender. Vestibular obliteration was seen.
Following this, the patient was sent for occlusal radiograph which revealed slight buccal cortical expansion in relation to 46 and 47. Panoramic radiograph revealed normal coronoid and condylar process bilaterally with maxillary and mandibular teeth. Large multilocular radiolucency was seen on the right side of the mandible extending from 41 to the middle third of the ramus and well-defined single unilocular radiolucency of 2 cm × 2 cm size in relation to 37 seen [Figure 2]. Computed tomography scan of the sagittal and coronal section revealed radiolucent area on the right body of the mandibular region. Erosion of the buccal cortical plate was seen. Axial section revealed radiolucent area on the right body of the mandible extending from the midline till the angle of mandible with loss of buccal cortical plate seen in relation to 43, 44, 45 region. Three-dimensional view showed the expansion of buccal cortical plate.
|Figure 2: Panoramic radiograph revealing large multilocular radiolucency seen on the right side and single unilocular radiolucency on left side of the mandible|
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Fine needle aspiration was performed intraorally with respect to the right vestibule in relation to 46 and 47 which showed a blood-tinged creamy-white thick material (albumin: 2.5 g/dl, globulin: 1 g/dl). A skin punch biopsy below the infraorbital region on the right side was performed before the surgery, and the histopathological examination revealed epidermis composed of keratinized stratified squamous epithelium exhibiting orthokeratosis and focal parakeratosis. Solid group of atypical basaloid cells are present at dermoepidermal junction showing peripheral palisading and artifactual retraction spaces between tumor nests and dermis. The dermis shows proliferating capillaries, perivascular lymphocytic infiltrate, fibrocollagenous tissue, and pigment incontinence. Biopsy claimed that histopathological features were that of nevoid basal cell carcinoma syndrome.
Thus, correlating the clinical, radiographic, and histopathological features, a diagnosis of multiple odontogenic keratocysts associated with GGS was made. Enucleation and buccal corticotomy on the right of the mandible under general anesthesia were performed [Figure 3]. After enucleation, the specimen was marked and sent for histopathological evaluation which gave an impression of odontogenic keratocyst [Figure 4]. The patient was prescribed antibiotics for 5 days. Oral hygiene instruction was given. The patient came for follow-up after 2 months without any recurrence.
| Discussion|| |
GGS is a multisystem process comprising the classic triad of multiple basocellular epitheliomas, keratocysts in the jaws, and bifid ribs, which was delineated only in 1960 by Robert James Gorlin and William Goltz. This triad was later modified by Rayner, who established that the diagnostic criteria would require cysts to appear in combination with calcification of the falx cerebri or palmar and plantar pits.,,
The pathogenesis of GGS is attributed to be the consequence of abnormalities in the PTCH gene. The loss of human patched gene (PTCH1 gene), a tumor-suppressor gene, is significant for embryonic structuring and cellular cycle; thus, its mutation leads to the development of the disease including neoplasms which form the molecular basis of the syndrome. Patients with GGS inherit one defective copy of the tumor-suppressor gene and acquire a “second hit” mutation, such as from ultraviolet (UV) light or ionizing radiation. Recently, mutations in suppressor of fused gene (SUFU) on chromosome 10q and PTCH2 on chromosome 1p have been found in patients meeting criteria for GSS. Of note, patients with SUFU mutations have reported 20-fold increased risk of developing medulloblastoma as compared to PTCH1 mutations in GSS.,
As patients with GGS show increased propensity to multiple malignant neoplasms and are also sensitive to ionizing radiation including UV radiation, it is important to make an early diagnosis. Patients undergoing regular and detailed checkups can reduce the severity of complications, such as malignant skin, brain tumors, and maxillofacial deformities due to odontogenic keratocysts. Diagnosis is based upon established major and minor criteria [Table 1] and is ideally confirmed by DNA analysis. The diagnostic criteria for nevoid basal cell carcinoma, established by Evans et al. and modified by Kimonis et al. in 1997, state that two major or one major and two minor criteria should be present for diagnosis. In the above case, two major criteria (multiple odontogenic keratocysts of the jaw and presence of basal cell nevi) were detected, suggesting that the patient had GGS.
In the treatment of GGS, a multidisciplinary approach is required which involves removal of tumors by surgical excision, laser ablation, photodynamic therapy, or topical chemotherapy, while radiotherapy is a contraindication. Chemoprevention involves use of Vitamin A analogs. Recurrent odontogenic cysts (up to 60% of cases) require repeated surgical excisions. 5%–10% of the patients may develop brain medulloblastoma, a potential cause of early death, thus requiring intervention by a neurologist. Although survival in Gorlin-Goltz patients is not affected significantly, morbidity from complications can be considerable. Nowadays, gene mutation analysis, if feasible, can confirm diagnosis. Antenatal diagnosis is possible with ultrasound scans and DNA analysis. Thus, a genetic counselor is of importance in the ongoing care of the patient. Based on the understanding of the Hh signaling pathway and the premise that tumors arise due to its overactivity, a new treatment strategy supposes that the inhibition of this pathway with specific pharmacological treatment might suppress tumor growth.
| Conclusion|| |
Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. Appropriate management depends on early recognition of the disease, a detailed family history, and a thorough evaluation of signs and symptoms. A multidisciplinary approach team consisting of various specialists is required for a successful treatment. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder as prevention is better than cure.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]