|Year : 2021 | Volume
| Issue : 3 | Page : 168-171
Gorlin–Goltz syndrome: Happenstance finding- A case report
Khooshbu Gayen, Sagar L Pabale, Paras Angrish, Supreet Shailesh Shirolkar, Subir Sarkar
Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, Kolkata, West Bengal, India
|Date of Submission||23-Feb-2021|
|Date of Decision||04-Jun-2021|
|Date of Acceptance||04-Jun-2021|
|Date of Web Publication||17-Sep-2021|
Dr. Supreet Shailesh Shirolkar
Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, Kolkata-700014, West Bengal
Gorlin–Goltz syndrome (GGS), due to its sparse occurrence in various populations along with the variety of associated signs and symptoms, very often becomes a missed diagnosis. The most commonly associated triad with GGS is that of multiple odontogenic keratocysts in the jaws, skeletal abnormalities, and multiple basal cell nevus carcinomas. In many cases, each of these conditions is treated separately and the recognition of underlying syndrome is rare or happenstance. The case reported here is rare of its kind as it has been diagnosed in the first decade of life, thus avoiding the possibility of morbidity in later life in the form of neoplasia and hostile basal cell carcinomas. As per our knowledge, no case had yet been reported at this early age and it emphasizes the importance of pedodontist in early recognition of the syndrome.
Keywords: Bifid rib, Carnoy's solution, fine-needle aspiration cytology, Gorlin–Goltz syndrome, nevoid basal cell carcinoma, odontogenic keratocyst
|How to cite this article:|
Gayen K, Pabale SL, Angrish P, Shirolkar SS, Sarkar S. Gorlin–Goltz syndrome: Happenstance finding- A case report. SRM J Res Dent Sci 2021;12:168-71
|How to cite this URL:|
Gayen K, Pabale SL, Angrish P, Shirolkar SS, Sarkar S. Gorlin–Goltz syndrome: Happenstance finding- A case report. SRM J Res Dent Sci [serial online] 2021 [cited 2021 Dec 4];12:168-71. Available from: https://www.srmjrds.in/text.asp?2021/12/3/168/326206
| Introduction|| |
Gorlin–Goltz syndrome (GGS), an infrequent autosomal dominant disorder, shows a wide range of divergence in its expression and an excessive penetrance. The other synonyms for this syndrome are nevoid basal cell carcinoma syndrome (NBCCS), Gorlin's syndrome, Jaw cyst-basal cell nevus-bifid rib syndrome, and basal cell nevus syndrome. In 1960, Gorlin and Goltz, the pioneer of this disease, characterized this rare syndrome as a triad of odontogenic keratocysts (OKCs), multiple basal cell carcinomas, and bifid ribs. Later in 1977, Rayner et al. included some other characteristics to this syndrome which are palmar/plantar pits and calcification of falx cerebri. Equal representation of this disease is found in males and females and the reported low prevalence is 1 in 57,000–1 in 256,000 which is variable in different ethnic groups. The reason behind the occurrence of this disease is the mutation, mainly in a tumor suppressor gene PTCH1, which is located in 9q22.3-q31. There is an opportunity for the dentists to be the first to diagnose the syndrome due to the fact that multiple OKCs are mostly the first manifestation of this syndrome. Proper diagnosis and thorough proper investigation is needed to inhibit the destructive complications of this syndrome. From 1977 to 2018, a total of 53 patients in 39 case reports have been reported in the literature from India. This article reports the case of a 7-year-old patient who was diagnosed by happenstance with GCS. Usually, NBCCS is diagnosed after puberty, however, it is one of those rare cases which was to be reported at an early age which eventually goes in favor of decreasing the morbidity in association with basal cell carcinomas.
| Case Report|| |
A 7-year-old boy reported to the outpatient of the department of pediatric dentistry with a complaint of swelling in the front region of the lower jaw on the right side. The swelling seemed to have appeared about 7 months ago and has been increasing slowly ever since as per the history given by the parent. The patient was the only child to a nonconsanguineous couple.
On general examination, chest deformity was found with Sprengel's scapular deformity and mild pectus excavatum. Hand and legs were normal in appearance with the presence of all the fingers [Figure 1]a and [Figure 1]b.
|Figure 1: (a) Normal appearance of hands (b) showing the presence of scapular and chest deformity, (c and d) extraoral photograph showing mild macrocephaly, frontal bossing, flat nasal bridge, hypertelorism|
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On extraoral examination, mild macrocephaly, frontal bossing, widely spaced inner canthus of both the eyes, flat nasal bridge, and hypertelorism were observed [Figure 1]c and [Figure 1]d.
On intraoral examination, a soft, nontender, nonpulsatile swelling in the mandibular right labial sulcus extending from permanent mandibular lateral incisor to primary mandibular second molar was observed [Figure 2]a. In that region, pathological mobility was elicited in the primary teeth and the permanent teeth were also displaced. In the maxillary region, no such swelling or mobility of teeth was revealed. A high-arched palate was observed on an intraoral examination [Figure 2]b.
|Figure 2: (a and b) Intraoral photograph showing the presence of intraoral swelling, high-arched palate|
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Orthopantomogram revealed three well-corticated radiolucencies in the mandible right side from permanent mandibular lateral incisor to primary second deciduous molar displacing developing tooth germs of permanent teeth [Figure 3]b. External resorption was seen in the teeth surrounding the radiolucencies. Two large radiolucencies were seen bilaterally in the mandible extending from distal to permanent first molars to almost half of the ramus and surrounding the second molar tooth germs. Another radiolucent lesion was seen in the right mandibular parasymphyseal region. With the purpose of obtaining the most accurate limits of the multiple lesions, cone-beam computed tomography (CBCT) was taken. CBCT confirmed the presence of a well-defined unilocular radiolucency in the mandibular right parasymphyseal region displacing roots of permanent teeth and two unilocular radiolucencies surrounding mandibular right and left impacted permanent second molars along with thinning of cortical borders. CBCT has become an essential tool to estimate the accurate extent of the lesion, its relation with the impacted tooth, and other important anatomical structures before undergoing the surgical removal of OKC present in patients with GGS [Figure 3]a.
|Figure 3: (a) Cone-beam computed tomography and (b) orthopantomogram showing the presence of radiolucencies. (c) Posteroanterior view of chest X-ray showing the presence of bifid rib|
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Posteroanterior view of the chest X-ray revealed bifid rib (second and third) on the left side [Figure 3]c.
Based on the history given by the patient, clinical and radiological findings, a provisional diagnosis of multiple OKCs was made. A differential diagnosis of infected dentigerous cyst was also considered based on the finding of impacted mandible second molars and cystic lesions surrounding them. Based on certain dysmorphic features such as macrocephaly, hypertelorism, and chest deformities, a differential diagnosis of few genetic syndromes such as Marfan syndrome, Noonan syndrome, and Perlman syndrome was considered and evaluated. Final diagnosis was made after histopathological evaluation.
For further investigation and confirmation of the OKC, fine-needle aspiration cytology was done, and creamy white cheesy material was aspirated.
Surgical enucleation of the lesions along with excision of mandibular right primary canine and first molar, followed by chemical cauterization with Carnoy's solution, was done under general anesthesia, and the specimen was sent for histopathological evaluation. The cystic lining revealed a parakeratinized stratified squamous epithelium with a corrugated appearance and palisading pattern of the basal cells suggestive of OKC [Figure 4]a and [Figure 4]b. Regular follow-up of the patient was done in every 3 months after surgery. Soft-tissue healing was evaluated by clinical examination and palpation. Hard-tissue healing was evaluated by radiographic intervention [Figure 4]c. Lingual arch was further placed after 3 months of surgery to maintain space in the arch [Figure 4]d.
|Figure 4: (a) Histopathological picture of odontogenic keratocysts at ×10 and (b) ×4, (c) orthopantomogram 6 months after the surgical procedure (d) placement of lingual arch|
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| Discussion|| |
GGS initially consists of the triad of basal cell carcinomas, OKCs, and skeletal anomalies; the recognition of this syndrome is a challenge, especially in children, because the majority of the major criteria are not present before the second or third decade of life. Due to the sparsity of the reporting of this syndrome in literature, it remains mostly undiagnosed where the most commonly reported feature of this syndrome; OKCs often get treated without establishing the diagnosis of this syndrome. The incidence of GGS in the general population is estimated at 1 in 50,000-150,000 and the prevalence from 1/57,000 to 1/256,000 has been described. The syndrome shows a large variation in its presentation. Different types of symptoms appear in different cases, which is why every clinician should be familiar with all of the diagnostic criteria for this syndrome. Evans et al. first described major and minor diagnostic criteria in 1994 for diagnosis of this syndrome which was later modified in 2004 by Kimonis et al. To diagnose this syndrome, two major criteria or one major and two minor criteria are necessary. Despite the low prevalence of this syndrome, it should be considered serious due to its aggressiveness. The additional finding which increases the risk factor is that there is a high rate of recurrence of OKCs in NBCCS (60%) compared to nonsyndrome OKCs (28%). According to the literature review, the syndrome consists of different features involving craniofacial abnormalities such as frontal bossing (45.8%), macrocephaly (25%), bridging of sella turcica (29%), hypertelorism (54%), impacted or ectopic teeth (100%), multiple OKCs (95.8%), high-arched palate, bilateral coronoid hyperplasia, and oligodontia. Skeletal anomalies that are frequently present are polydactyly/syndactyly, rib anomalies, shortened fourth metacarpal, kyphosis/scoliosis sloping shoulders, radiolucencies/pseudocysts in hand or feet. Neurological anomalies such as mental retardation, dural calcification, agenesis of corpus callosum, congenital hydrocephalus, occurrence of medulloblastoma, and sexual anomalies such as hypogonadism and ovarian tumor-like fibrosarcoma are found. Skin anomalies (basal cell carcinoma and palmar/plantar pitting) and other anomalies including cardiac and ophthalmologic anomalies (dystopia canthorum, congenital blindness, and internal strabismus) are also found in this syndrome. Among these, the major criteria for the diagnosis of GGS are the presence of multiple Nevoid basal cell carcinomas (NBCCs), OKCs in the jaw, palmar of plantar pits, bilamellar calcification of falx cerebri, bifid, fused or markedly splayed ribs and minor criteria are the presence of congenital malformations, other skeletal abnormalities, macrocephaly, radiological abnormalities, and ovarian fibroma.
Various other neoplasms with low prevalence have also been reported with this syndrome which are multiple epiphyseal dysplasia, meningiomas, ovarian and cardiac fibromas, and epidermoid cysts. Bifid rib, multiple OKCs, frontal bossing, hypertelorism, scapular deformity, and chest deformity were found in this case.
CBCT provides a high-spatial resolution of all anatomic structures and accurate understanding of the relationship with the lesion. Three-dimensional representation of the scan images helps to assess the location, size, extent, and expansion of the lesion. CBCT enables us to remove OKC more precisely during surgery, reducing the rate of recurrence.
GGS is a few and far between genetic diseases with autosomal dominant or spontaneous mutation which is seen in 35%–50% of cases. In this case, the patient had no family history, indicating that the mutation was most likely spontaneous. The diagnosis of the GGS in this case was done due to the presence of two major criteria, multiple OKCs of the jaw bone and bifid rib, and four minor criteria which were macrocephaly, hypertelorism, flattened nasal bridge, and dysmorphic thorax [Flowchart 1]. OKCs present in this case are the most common and consistent feature of GGS and mostly found in the mandible (69%) than maxilla (31%). Conservative treatment approach was considered in this case and that is why marsupialization followed by enucleation was done to prevent negative impact on the development of the involved jaw, eruption process, and tooth development. Mandibular second molars were spared at the time of operative procedure considering the age of the child, but regular follow-up was advised. After 1 year of follow-up, the patient failed to return. Long-term regular follow-up is mandatory considering the high rate of recurrence of OKCs when associated with GGS (82%). Considering the fact that the syndrome becomes very aggressive as the age progresses and the susceptibility to develop into a neoplasm, the diagnosis should be precocious and early intervention is needed.
| Conclusion|| |
In the literature, over 100 criteria have been reported with GGS such as hypoplasia of the corpus callosum, absent septum pellucidum, fibrous dysplasia of bilateral maxillary sinuses, and calcification of falx cerebri. In this present case, the index clinical manifestation of this condition is the diagnosis of OKCs, and after further investigation, the presence of bifid rib, frontal bossing, hypertelorism, scapular deformity, and chest deformity helped in the diagnosis of this syndrome. Awareness about the syndrome among dentists plays a significant role in early diagnosis.
Regarding the expected complications of this syndrome such as basal cell carcinoma in the later stage of life, aggressive nature of OKC proper counseling should be given to the patients that regular follow-up visit to the dentists, dermatologists, and other medical professionals is mandatory. Further research should be done related to this syndrome on mutation of different genes that can be related to this so that in future, gene replacement therapy can be a savior to the patients affected with this syndrome.
Declaration of patient consent
Written informed consent was obtained from the patient's parents before reporting the case. Assurance was given to parents that the names and photographs will not be revealed in the article and due efforts will be undertaken to conceal the identity.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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