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| CASE REPORT |
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| Year : 2018 | Volume
: 7
| Issue : 3 | Page : 200-203 |
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Nevoid basal cell carcinoma syndrome: A case report
Venkatesh K Dodda1, Sravya Taneeru1, Venkateshwara R Guttikonda1, Rajsekhar Gaddipati2
1 Department of Oral Pathology and Microbiology, Mamata Dental College, Khammam, Telangana, India
2 Department of Oral and Maxillofacial Surgery, Mamata Dental College, Khammam, Telangana, India
| Date of Web Publication | 17-Sep-2018 |
Correspondence Address:
Dr. Venkatesh K Dodda
Department of Oral Pathology and Microbiology, Mamata Dental College, Khammam - 507 002, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/JDRNTRUHS.JDRNTRUHS_3_18
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patch (PTCH), a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. NBCCS is characterized by basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, pits of the palms and soles, ectopic calcification particularly of the falx cerebri, and skeletal anomalies. Other features, including ovarian fibromas, medulloblastoma, ocular anomalies, and neurological defects, are also associated with this syndrome. It arises in all races with equal sexual predilection. It is a rare syndrome and incidence rate is 5%. In this report, we present a case of NBCCS in a 30-year-old male patient.
Keywords: Basal cell nevus syndrome, Gorlin syndrome, Gorlin–Goltz syndrome, nevoid basal cell carcinoma syndrome, odontogenic keratocyst
How to cite this article:
Dodda VK, Taneeru S, Guttikonda VR, Gaddipati R. Nevoid basal cell carcinoma syndrome: A case report. J NTR Univ Health Sci 2018;7:200-3 |
| Introduction | |  |
Nevoid basal cell carcinoma syndrome (NBCCS) is also known as basal cell nevus syndrome, multiple basal cell carcinoma (BCC) syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome. This is an inherited medical condition involving defects within multiple body systems such as the skin, eyes, genitourinary system, central nervous system, endocrine system, and bones.[1]
The principal clinical features of NBCCS comprise multiple BCCs, odontogenic keratocystic (OKC) tumors, congenital skeletal anomalies, intracranial calcification, and multiple palmar and/or plantar pits.[2] A case of NBCCS in a 30-year-old male diagnosed based on clinical and histological criteria is reported here.
| Case Report | | |
A 30-year-old male patient reported to the outpatient department of our college complaining of pain and pus discharge from the lower right back tooth region for the past one month. Past dental history revealed swelling in the right maxillary posterior region in the year 2004, which was diagnosed as OKC and treated. After 1 year (2005), swelling was noticed over the left maxillary posterior region and was diagnosed as OKC and an ulcerated growth on inferior orbital region is also noticed, which was diagnosed as BCC and was treated in a private clinic. Later in the year 2010, he noticed a swelling over the right mandibular posterior region, which was diagnosed as infected OKC and treated for the same.
In the year 2016, the lesion recurred in the same region. On examination, an intraoral oval swelling extending from the mesial aspect of 46 to distal aspect of 47 of size 2 × 1 cm was noticed. On palpation, the swelling was tender and firm in consistency. Congenitally missing 12, 22, and 43 teeth and open socket in relation to 45 [Figure 1] were also noticed. Extraorally, an ulcer with rolled margins was seen on the frontal surface of the face [Figure 2]. | Figure 1: Congenitally missing 12, 22, and 43 teeth and open socket in relation to 45
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Orthopantomograph (OPG) revealed two oval-shaped radiolucencies on the right side of the mandible. One radiolucency was extending from the distal root of 47 to angle of the mandible on the right side, while another was starting from the mesial root of 46 to the apices of 41, 42. Supernumerary tooth was also seen at the lower border of the mandible between the periapical region of 46 and 47 [Figure 3]. Computed tomography revealed two well-defined radiolucencies involving the right side of the mandible [Figure 4]. | Figure 3: OPG reveals two radiolucencies on the right side of the mandible. Supernumerary tooth is also noted between the periapical region of 46 and 47
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 | Figure 4: Computed tomography revealed two well-defined radiolucencies involving the right side of the mandible
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Incisional biopsy was performed and sent for examination. Histopathology revealed 6–8-cell layered parakeratinized stratified squamous epithelium with surface corrugations. The basal cells revealed palisading appearance with hyperchromatic nuclei. The underlying connective tissue stroma is collagenous with dense chronic inflammatory cell infiltrate predominantly consisting of lymphocytes and plasma cells [Figure 5]a and [Figure 5]b. Satellite cysts were noted [Figure 5]c. Focal areas of hemorrhagic areas with engorged blood vessels were also noted [Figure 5]d. Based on the clinical, radiographical, and histological findings, a diagnosis of NBCCS was made. | Figure 5: (a) Epithelium is 6–8-cell layered parakeratinized stratified squamous type with surface corrugations. Palisading basal cells with hyperchromatic nuclei (×10). (b) Connective tissue stroma is collagenous with dense chronic inflammatory cell infiltrate predominantly of lymphocytes and plasma cells (×10). (c) Satellite cysts in the connective tissue stroma (×10). (d) Focal areas of hemorrhagic areas with engorged blood vessels (×10)
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Complete surgical excision of the lesion was performed and sent for histopathological (H/P) examination. The H/P features confirmed the final diagnosis of NBCCS. Patient is under follow-up for the last few months, and no recurrence was observed till date.
| Discussion | | |
NBCCS was first described in 1960 by Gorlin and Goltz, which was characterized by multiple BCCs, OKCs, and bifid ribs.[3] Rate of occurrence of NBCCS is 1 in 19,000 to 1 in 256,000.[2],[4],[5]
The tumor suppressor gene responsible for NBCCS, patched (PTCH), was identified in 1996. Individuals with NBCCS who inherit one mutated copy of PTCH are highly susceptible to developing a range of tumors in which the remaining allele has been inactivated. This heterozygosity for PTCH is also responsible for the developmental abnormalities seen in NBCCS. The majority of PTCH germline mutations in NBCCS are predicted to lead to premature truncation of the protein, and are thus assumed to encode null PTCH alleles.[6] As a result, it is assumed that many of the heterozygous effects of patched mutations result from haploinsufficiency.[7]
NBCCS usually occurs in the age ranging from 10 to 30 years with equal sex predilection. It shows variable clinical features, including multiple nevoid BCCs, multiple OKCs, other congenital skeletal defects, ectopic calcifications, plantar and palmar pits, central nervous system, ocular lesions, mild mandibular prognathism, and a characteristic facies with frontal and temporoparietal bossing, resulting in an increased cranial circumference (>60 cm in adults). BCCs of the skin are major component of this syndrome. In NBCCS, the BCCs often appear on the skin that is not exposed to sunlight, mainly midface area. In the present case, multiple OKCs and BCCs were reported in 30-year-old male.
Radiographically, the cysts in patients with NBCCS are similar to OKCs. Antero-posterior radiograph shows bifid ribs. Computed tomography shows ectopic calcification of the falx cerebri and multiple cysts in both the jaws with expansion of the cortical bones.[5]
Histopathologically, the NBCCS shows features of both BCC and OKC. Immunohistochemically, overexpression of p53 and cyclic D1 oncoproteins is seen in NBCCS in contrast to isolated OKCs.[5]
The guidelines for proper diagnosis include a proper family history, clinical examination, chest and skull radiographs, OPG of the jaws, magnetic resonance imaging of the brain, and pelvic ultrasonography in female patients. Diagnosis of NBCCS is made in the presence of two major or one major and two minor criteria [Table 1].[8] In the present case, multiple BCCs and OKCs were noted, which follow major inclusion criteria and aid in the diagnosis of the syndrome.
Surgical excision, electrodessication, and curettage were performed to treat small BCCs and OKCs. Other treatments such as laser ablation, photodynamic therapy, and topical chemotherapy may be effective in patients with multiple lesions. Syndrome-associated OKCs have the highest recurrence rate, representing approximately 5% of all OKC patients.[9]
| Conclusion | | |
NBCCS is a rare syndrome which should be diagnosed by using diagnostic criteria, and a thorough clinical examination supplemented with appropriate investigations reveals the concerned diagnosis. Due to the frequent recurrence of syndromic OKC, early diagnosis and treatment of NBCC syndrome should be the mainstay.
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
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Garcia de Marcos JA, Dean-Ferrer A, Arroyo Rodriguez S, Calderon-Polanco J, Alamillos Granados FJ, Poblet E. Basal cell nevus syndrome: Clinical and genetic diagnosis. Oral Maxillofac Surg 2009;13:225-30.  |
| 2. | Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32. |
| 3. | Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960;62:908-12. |
| 4. | Yang XR, Pfeiffer RM, Goldstein AM. Influence of glutathione-S transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet 2006;43:ee16. |
| 5. | Neville BW, Damm DD, Chi AC, Allen CM. Oral and maxillofacial pathology. First South Asian Edition Elsevier Health Sciences; 2015.pp. 640-4. |
| 6. | Bale AE. Variable expressivity of patched mutations in flies and humans. Am J Hum Genet 1997;60:10-2. |
| 7. | Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, et al. De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet 1997;73:304-7. |
| 8. | Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, Di Giovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308. |
| 9. | Joshi PS, Deshmukh V, Golgire S. Gorlin Goltz syndrome. Dent Res J (Isfahan) 2012;9:100-6. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
[Table 1]
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