Bifid Jaw Cyst Basal Cell Nevus Syndrome: A Case Report 33 33

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India 1. Department of Oral Medicine & Radiology, Sharad Pawar Dental College, DMIMSU, Wardha, Wardha, DMIMSU, College, Dental Pawar Sharad Radiology, & Medicine Oral of Department 1. India Dental College, Nagpur, V.S.P.M. 2. Department of Oral Medicine & Radiology, Rahul R. Bhowate

J Kor Dent Sci. 2011; 4(1) : 33 - 37 Key word : Abstract This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// This is an open access article distributed under the terms of the Creative Commons

Received for publication Jan 15, 2011; Returned after revision Mar 15, 2011; Received for publication Jan 15, 2011; Returned Accepted for publication Apr 5, 2011 · · Corresponding Author Anand Ruchi M. Dr. Sharad Pawar Dental College, DMIMSU, Sawangi (Meghe), Department of Oral Medicine & Radiology, Maharashtra, India Pin: 442004, Wardha, E-mail : [email protected] : +91-9960556569 FAX : +91-9823867509 TEL Gorlin–Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance. It is is It penetrance. of degree high a with disorder dominant autosomal an is syndrome Gorlin–Goltz ectopic and pits plantar and palmar keratocysts, odontogenic carcinomas, cell basal by characterized The presence of two major and one minor criteria or one major and three minor calcifications of falx cerebri. Gorlin-Goltz syndrome, as criteria are necessary to establish a diagnosis. Early diagnosis and treatment of in 10% of patients with well as family screening and genetic counseling are essential as it may be associated Gorlin-Goltz with patient a here report We neoplasias. malignant and carcinoma cell basal aggressive syndrome. · creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any any in reproduction and distribution, use, non-commercial unrestricted permits which creativecommons.org/licenses/by-nc/3.0) medium, provided the original work is properly cited.

Report Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case A Case Syndrome: Nevus Basal Cell Cyst Bifid Rib Jaw Introduction Case Report

Several reports have appeared in the literature describing a A 23-year-old male patient reported the department of oral rare syndrome variously called as Gorlin's syndrome, medicine and radiology with a chief complaint of extraoral Gorlin-Goltz syndrome, basal cell nevus syndrome, basal firm swelling on right side of mandible. The patient gave cell carcinoma syndrome and nevoid basal cell carcinoma history of dull aching pain initially with the right man- syndrome. dibular molar region around 6 months back. The duration of The nevoid basal cell carcinoma syndrome (NBCCS) was the swelling was since last 20 days. There was no discharge first reported by Jarish in 1894 who described a patient with of any type and he never had any abnormal sensation on the multiple basal cell carcinoma, and learning disa- affected side. On examination, the swel ling was hard and bility. Howell and Caro in 1959 were the first to associate nontender. It extended from the region of first mandibular the basal cell nevus with other cutaneous disorders and premolar to retromolar region on right side. Patient's me - other anomalies1). In 1960 Gorlin and Goltz de fined the dical, dental, family and personal history was noncon tri- condition as a syndrome comprising the principal triad of butory. multiple basal cell nevi, jaw keratocysts, and skeletal ano- On general physical examination, the patient was modera- malies. A spectrum of other neurological, ophthalmic, endo- tely built and nourished, presenting with normal gait and crine, and genital manifestations are now known to be asso- satisfactory vital signs. On examination of face it revealed ciated with this triad1,2). mild prognathism, frontal bossing and (Fig. Often these patients first visit a dental hospital with the 1). Head circumference measured was about 56 cm that was chief complaint of jaw swelling where the diagnosis of this considered within normal limits. There was a diffuse swel- syndrome is generally made. We would like to report one ling in the left middle third of the face with no secondary such case of Gorlin's syndrome. The purpose of this case changes noted over it. A solitary bilateral subman dibular report was to present the computed tomographic (CT) lymph node of size 1×1.5 cm approximately was palpable, features along with three dimensional radiographic features tender, soft in consistency and mobile. in addition to the radiographic findings. Intraoral examination revealed clinically missing permanent mandibular third molars, right side canine and second premolar. In the maxillary arch, right third molar and left canine were also missing. There was an expansile swelling in the right mandibular buccal vestibule area causing vesti- bular obliteration in region of first and second molars exten- ding distally upto retromolar region. Mucosa over the swel- ling showed no secondary changes (Fig. 2). On palpation the swelling was tender and firm in consistency. Based on the history and clinical findings, a provisional diagnosis of

Figure 2. Intraoral examination reveals. (A) missing maxillary Figure 1. Extraoral examination reveals a diffuse canine on left side, (B) diffuse swelling with the right retromolar swelling with right body of mandible. area.

Ruchi M. Anand, et al: Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report. Ruchi M. Anand, et al: Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report. J Kor Dent Sci 2011. J Kor Dent Sci 2011.

34 I J Kor Dent Sci. Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report 35

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th & 4 rd pacted teeth Vol 4, No 1, 2011. ribs. th and 4 J Kor Dent Sci 2011. rd cere bri. Axial view clearly showed the bri. cere xil lary third molar with distomolar dis- distomolar with molar third lary xil Ruchi M. Anand, et al: Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report. Figure 4. Chest radiograph reveals the bifid ribs with 3 with ribs bifid the reveals radiograph Chest 4. Figure CT examination confirmed the ortho pantomograph find in pantomograph find confirmed the ortho examination CT expansile lesions with im showing multiple large with calcifications in maxilla and mandibular region, along seen clearly in the falx ma right impacted The parents and (Fig. 5). pletely in sinus region placed com border of ramus to mid-ramus area was noticed. In maxil- area was noticed. ramus to mid-ramus border of was seen radiolucency well defined pericoronal lary region, of divergence the into resulting canine left impacted with Also seen was pe cisors. lateral left in roots of central and dis- superiorly with ciation asso in radiolucency coronal third molar along with small super- placed right maxillary to it into the right maxillary sinus. numerary tooth anterior cysts in the jaws, associated with The presence of multiple drome Syn Gorlin’s of suspicion a raised teeth, unerupted opo- Anter done. were investigations relevant other and examination of the skull showed linear sterior radiographic graph cerebri (Fig. 3B). Chest radio calcification of the falx (Fig. 4) showed bifid ribs with 3 ribs on left side (digitally enhanced). Ruchi M. Anand, et al: Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report. J Kor Dent Sci 2011. J Kor Dent Sci 2011. Figure 5. CT evaluation showed (A) large expansile cystic lesions with right and left mandible, (B) Figure 5. CT evaluation showed (A) large expansile cystic lesions with right and left mandible, (B) lesion cystic a (C) sinus, maxillary right the into distomolar and molar third maxillary displaced involving impacted left maxillary canine. Figure 3. Radiographic investigations; (A) Panorex showing showing Panorex (A) investigations; Radiographic 3. Figure showing skull PA (B) jaw, lower and upper with cyst multiple calcification of falx cerebri. Ruchi M. Anand, et al: Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report. dentigerous cyst in relation to clinically mis sing right man- sing right clinically mis cyst in relation to dentigerous rential diagnosis of and a diffe molar was given bular third di blastoma were consi- amelo keratocyst (OKC), odontogenic for radiographic investi- jected The patient was sub dered. gations. - revealed multiple, well defined radio Orthopantomograph pacted im with maxilla in borders sclerotic with lucencies left canine supernumerary distomolar, right third molar and left canine and second premolar and and in mandible with third molar as described below also with right mandibular (Fig. 3A). right radiolucency was observed with multilocular large A peri- from anteroposteriorly extending area mandibular region, and apical region of first premolar to the mid-ramus olar crest and alve superoinferiorly from the mid-ramus area in ramus and in molar area to inferior border of mandible of placement dis causing respectively, mandible of body well cular unilo large another Incidentally molar. third area ramus left the in observed was radiolucency fined de notch to apical extending superoinferiorly from the sigmoid anterior from anteroposteriorly and molar third of region cially in the vast rural regions of India, outside big cities1,3). The Gorlin–Goltz syndrome has equal predilections for either sex. Male to female ratio is 1:0.62 for OKC not asso- ciated with NBCCS and 1:1 for OKC in NBCCS, that is simple keratocysts are more common in males, but more females with NBCCS develop OKCs2,3). OKCs associated with NBCCS have greater predilections Figure 6. Micrograph at high power view (H & E, 40x) showing for the mandible than the maxilla, with 69% occurring in features of odontogenic keratocyst. (A) Parakeratinized stratified squamous epithelium with lack of rete ridges along the mandible and 31% in the maxilla. In the mandible 43% with palisaded basal cell layer with hyperchromatic nuclei, (B) occurs in the molar ramus region followed by 18% in the an artefactual separation from their basement membrane. incisor-canine area, and 7% in the premolar area and in the

Ruchi M. Anand, et al: Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report. maxilla, 14% occurs in the incisor and canine region J Kor Dent Sci 2011. followed by 12% in the molar tuberosities, and 3% in the premolar region3). siblings of the patient were also examined clinically and In the present case two OKCs were in the molar-ramus radiographi cally; however, none of them showed any areas of the mandible, while remaining two were in maxil- charac teristics of this con dition. Since the criteria of mul- lary molar region and in incisor-canine region res pec tively. tiple cysts in the jaws (one of them being OKC), frontal This disorder has an autosomal dominant mode of inhe- bossing and falx cerebri calcification were present; a final ritance, but can arise spontaneously and have a variable diagnosis of Gorlin's syndrome was given. Patient was phenotypic penetration6). Almost 60% of patients with referred to the department of oral and maxillofacial surgery NBCCS have no known affected family members, 35 to where enu cleation of all cysts was done. And cystic lining 50% of these representing new mutations1,3). The study done was sent to Oral Pathology depart ment where histo patho- by many authors indicates that OKCs are often the first sign logical inves tigations were done. Histo patho logical findings of NBCCS (78%) and can be detected in patients younger (Fig. 6) confirmed the diag nosis of OKC. than 10 years of age2,7). Multiple OKCs, arising from the rests of dental lamina of the mandible and occasionally the Discussion maxilla are common in this disorder seen almost in 75% of patients, with a peak incidence in the second and third NBCCS is rare inherited disorder with multisystem mani- decade of life1). These are unilocular or multilocular, lined festations, an autosomal dominant gene transmits it and by stratified squa mous epithelium and may contain whose mutation underlies NBCCS has been mapped to the displaced teeth. These cysts may be com pli cated by the long of chromosome 9g22.3~g312). Data suggest that a development of patho logical fractures, ame loblastoma and product of this gene acts as tumor suppressor and NBCCS squamous cell carcinomas, and have a high rate of recur- typical malformative pattern suggest that the main function rence1,8). is to control the growth and development of normal tis- An important clinical finding of this syndrome is the pre- sues.2) sence of multiple basal cell carcinomas, predominantly invol- NBCCS prevalence has been variously estimated from 1 in ving the face and trunk with an early age of appearance. 57,000 to 1 in 164,000, but there is general agreement that However, about 10% of patients above the age of 30 may the preva lence is about 1 per 60,0001). Males and females show no basal cell carcinomas. It has also been reported that are equally affected, the clinical features of NBCCS arising black persons have a decreased tendency to develop basal in the first, second or third decade2). cell carcinomas as compared to fair skinned persons; pro- The reported review revealed that, to date, there are only bably due to increased pigmentation of their skin. Other seven cases of the Gorlin-Goltz syndrome reported from skin lesions include palmer or planter pits, milieu, come- India, out of which only two were from North India, and dones, sebaceous or epithelial cysts and dyskeratosis. In this five were from South India. This most probably repre sents case there were no lesions of basal cell carcinomas at any under-recognition due to inadequate dental facilities, espe- part of the body. Also seen features are rib anomalies,

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I along . s syndrome - - syndrome s ′ 10) Vol 4, No 1, 2011. . According to him, diagnosis of . 5) carcinoma syndrome. Anticancer Res. 2010; carcinoma syndrome. . Leo nardi et al. in 2010 sug gested the inclusion gested the inclusion al. in 2010 sug nardi et . Leo 2,3,6) Soc Pedod Prev Dent. 2005; 23: 198-203. 2nd ed. Philadelphia: Saunders; 2002. p. 598- Maxillofacial Pathology. 601. radiographic and CT manifestations. Indian J Radiol Imaging. 2003; 2003; Imaging. Radiol J Indian manifestations. CT and radiographic 13: 19-22. report. J Indian Soc Pedod Prev Dent. 2007; 25: 137-9. Palazzo G, Lo Muzio L. Atlanto-occipital ligament calcification: a novel Palazzo G, Lo Muzio L. sign in nevoid basal cell 30: 4265-7. 7. In: Neville BW, Damm DD, Allen CM, Bouquot JE: Oral and and Oral JE: Bouquot CM, Allen DD, Damm BW, Neville In: 7. Gorlin S. Domkundwar M, Rahalkar SG, Gandage 8. 9. Rai S, Gauba K. Jaw cyst-basal cell nevus-Bifid rib syndrome: a case 9. with oro-maxillofacial deformation. The present case was diagnosed as Gorlin–Goltz synd rome synd The present case was diagnosed as Gorlin–Goltz three major criteria and was established by the presence of and cerebri) falx calcified and bifid OKCs, multiple (viz, hypertelorism). two minor criteria (viz, frontal bossing and and systemic radio- This syndrome has a number of skeletal are ings find common most the but manifestations, logical should alert the multiple OKCs and basal cell nevus which syndrome. this of nosis diag the in aid can and radiologist to prevent long Early diagnosis and treatment is important oro-maxillofacial and malignancy including squeal term deformation and destruction. presenting manife- In conclusion, as OKC is frequently the early diag- station of this syndrome, this condition requires nosis to prevent clinical progression and complications Gorlin’s synd rome can be established when two major or or major two when established be can rome synd Gorlin’s are below cribed des as criteria minor two and major one criteria or should be at least two or one major There present. of nosis diag the for criteria minor two and major one NBCCS malities (spren gel’s defor mity, marked pectus deformity, deformity, pectus marked mity, defor gel’s (spren malities malities abnor of the digits), radiological marked syn as such anomalies vertebral turcica, sella of (bridging bodies, vertebral of gation elon or fusion hemivertebrae, rian fibromas and medullo- feet), ova defects of hands and blastoma as minor criterias of atlanto-occipital liga ment calci fication as diag nostic nostic diag as fication calci ment liga atlanto-occipital of rias tion to other crite feature for NBCCS in addi 10. Leonardi R, Santarelli A, Barbato E, Ciavarella D, Bolouri S, Härle F, A, Barbato E, Ciavarella D, Bolouri S, Härle F, Leonardi R, Santarelli 10. losum, . Out of these Singh S. Gorlin- 8) cardiac fibromas and a ribs, first degree relative Grover N, Jaidka S, ous other neoplastic lesions such as . derate or severe hyper telorism), other skeletal abnor - telorism), other skeletal abnor derate or severe hyper 1,6,8,9) carcinoma syndrome: a review of the literature. Int J Oral Maxillofac 2004; 33: 117-24. Surg. cell carcinoma syndrome. Indian J Dent Res. 2006; 17: 50-3. Goltz syndrome. J Oral Maxillofac Pathol. 2009; 13: 89-92. Am Fam Physician. 2002; 65: syndrome: guidelines for early detection. 2501-4. Orphanet J Rare Dis. 2008; 3: 32. References 2. Karthiga KS, Sivapatha Sundharam B, Manikandan R. Nevoid basal basal Nevoid R. Manikandan B, Sundharam Sivapatha KS, Karthiga 2. Jawa DS, Sircar K, Somani R, 3. nevus cell Basal MA. Hoard MI, Dahman CK, Herman GJ, Bitar 4. 5. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). 6. VG, Gupta B. Gorlin syndrome: a case report. J Indian Patil K, Mahima 1. Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell cell basal Nevoid S. Porter M, Bonanini P, Vescovi M, Manfredi 1. reported findings, the finding of calcification of falx cerebri reported findings, the case. In addition to skull view of this AP was observed in ved with third and bifid rib was obser these findings fused view. graph on PA of chest radio fourth rib on left side the of calcification to due turcica sella the of Bridging Neuro- patients. of 60~80% in seen is sellae diaphragma agenesis of the corpus cal logic abnormalities include melanomas, neuro fibromas, rhabdomyosarcomas and leio- and rhabdomyosarcomas fibromas, neuro melanomas, myo mas congenital hydrocephalus, mental retardation, medullo- retardation, mental hydrocephalus, congenital malities abnor blastomas and meningiomas. Ophthalmologic congenital bismus, seen are dystopia canthorum, internal stra repro- the of malities Abnor hypertelorism. and blindness rine fibromas in females, ductive system are ovarian and ute Miscel- males. in gonadism hypo and cryptorchidism and mesenteric lymphatic are reported abnormalities laneous malities, cysts, minor kidney abnor tendency to develop vari A diagnostic criteria for NBSCCS, which was modified in A carcinoma or one 1997 which included multiple basal cell proven histologically years, 20 of age under occurring OKCs of the jaws, OKCs of the jaws, palmar or plantar pits bifid, fused or markedly splayed congeni- jor criteria and , with NBCCS as ma (cleft lip or palate, frontal bossing, coarse tions ma tal malfor face, mo vertebral anomalies. In the skull there is early onset of of onset early is there skull the In anomalies. vertebral brid- cerebelli, tentorium cerebri, falx the of calcification dia- the of calcification to due turcica sella the of ging in 60~80% of patients phragma sellae is seen