Gorlin-Goltz syndrome (GGS) was reported by Jarisch and White in 1894 [1], and was described in detail by Gorlin in 1960 [2]. It manifests during first to third decade of life and is characterized by the triad of basal cell nevi, jaw keratocysts and skeletal anomalies [3]. Here, we present a case of GGS who presented with recurrent facial swelling secondary to iatrogenic foreign body (surgical gauge) in left maxillary sinus. Such kind of case has not previously been reported in literature to the best of our knowledge.

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Figure 1. Clinical photograph showing swelling of the left side of the face and frontal bossing.

A 15-year-old boy presented with a chief complaint of recurrent left facial following intra-oral surgery done elsewhere for slowly progressing swelling of upper jaw 6 months back. Patient's family and personal histories were non-contributory.

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Figure 2. Contrast enhanced computerized tomography of nose and paranasal sinuses showing soft tissue shadow in both maxillary sinuses bony defect of anterolateral wall of left maxillary sinus.

The general physical examination was normal. Facial examination showed frontal bossing and a diffuse tender swelling in left middle third of the face (Figure–1). Intra-oral examination showed permanent complements of teeth along with sublabial scar on both sides. Patient was admitted and started on broad spectrum antibiotics. Contrast enhanced computerized tomography (CT) of nose and paranasal sinus showed soft tissue shadow in both maxillary sinuses with bony defect of antero-lateral wall of left maxillary sinus because of previous surgery (Figure-2). Detail review of patient’s old record, orthopantomogram and CT scan revealed multiple jaw cysts involving both mandible and maxilla (Figure-3a, b, & c). Review of slides and blocks of specimen of outside surgery confirmed the diagnosis of odontogenic keratocyst.

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Figure 3. (A): Orthopantomogram showing multiple cystic lesions in mandible and maxilla. (B): Computerised tomography showing cysts in maxilla and ascending ramus of maxilla. (C): Computerised tomography showing cysts in maxilla.

Antero-posterior view of skull showed linear calcification of falx cerebri. Hand, wrist and spine radiograph, showed no osseous anomalies. Chest radiograph revealed the presence of bifid fifth rib on right side (Figure-4). Examination of cardiovascular, central nervous system, skin and eye of the patient was normal. Pediatric examination revealed increased head circumference. Examination of right lower limb showed presence of polydactyly (Figure-5a & b).

As facial swelling was not responding to the antibiotics, the patient was taken up for transnasal endoscopic sinus surgery. During surgery, a gauge piece was found in left maxillary antrum which was removed and antral mucosa was found to be inflamed. Facial swelling well responded to antibiotics after surgery. Post-operative course was uneventful. Patient is being followed up regularly and is asymptomatic for last 4 years.

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Figure 4. Chest X-ray showing bifid rib 5thy rib on right side shown by red arrow.

GGS is an autosomal dominant inherited condition caused by mutations in patched tumor suppressor gene (PTCH) on chromosome 9q22.3 - q 314. Clinicians should be aware of this entity because these patients more likely to develop multiple neoplasms including basal cell carcinomas and medulloblastomas1. The diagnostic criteria of GGS were established by Evans et al and modified by Kimonis et al in 1997 [1] [2]. Diagnosis of GGS can be established when two major or one major and two minor criteria are present.

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Figure 5. (A): Clinical photograph showing polydactily of right lower limb. (B): X-ray of feet showing polydactyly on the right side.

Major criterias [3] [5] are:

• 1. more than two basal cell carcinoma or one basal cell carcinoma at younger than thirty years of age or more than ten basal cell nevi,
• 2. any odontogenic keratocyst (proven on histology) or polyostotic bone cyst,
• 3. three or more palmar or plantar pits,
• 4. ectopic calcification: lamellar or early at younger than twenty years of age,
• 5. falx cerebri calcification,
• 6. positive family history of nevoid basal cell carcinoma.

Minor criteria [3] [5] are:

• 1. congenital skeletal anomaly; fused, splayed, missing or bifid rib, wedged or fused vertebra,
• 2. occipital-frontal circumference more than 97%,
• 3. cardiac or ovarian fibroma ,
• 4. medulloblastoma,
• 5. lymphomesentric cysts,
• 6. congenital malformations such as cleft lip or palate, polydactylism or eye anomaly (cataract, coloboma,microphthalmus).

In our case, two major criterias (odontogenic keratocyst and falx cerebri calcification) and three minor criterias (increased occipito-frontal circumference, bifid rib and polydactylism) were present which were indicative of GGS.

Oral abnormalities [1] [3] are important signs for diagnosis in childhood and adolescence. Odontogenic Keratocysts are most constant features of this syndrome [1]. These cysts usually develop after the 7th year of life and reach the peak during 2nd and 3rd decade [2]. The mandibular-molar-ramus region is the most common site of origin of these cysts [6]. Cysts may be single or multiple, unilocular or multilocular [7]. The cysts may cause displacement of developing teeth. They are asymptomatic, unless secondarily infected. They are usually detected during routine dental check ups. Ameloblastoma and squamous cell carcinoma arising from these cysts have rarely been reported [2]. Repeated surgeries and recurrence of odontogenic keratocysts causes varying degree of jaw deformity [3].

CT helps in estimating size and number of the cysts [2]. Cysts can be either enucleated or marsupilised depending on size [1] [3]. Long term follow-up is advocated because of aggressiveness nature and high rate of recurrence of these cysts [8].

Presence of dontogenic keratocyst in first decade of life or onset of basal cell carcinoma before 20 years of age should alert the clinician to the possibility of this syndrome [9]. A complete intra-oral and systemic examination along with appropriate radiographic investigations should be done. The family members should be thoroughly examined and genetic analysis is advised to identify carriers [10]. As multiple systems are involved in this syndrome, different health specialists like pediatricians, dentists, maxillofacial surgeons, and dermatologist play a key role in diagnosis and managements of it and they must have basic knowledge of the main features of the syndrome to work accordingly in their different health specialities [9] [10]. Early diagnosis and treatment is required to prevent long term sequelae including malignancy and oromaxillofacial deformity9.Our case presented with left facial swelling secondary to retained foreign body (surgical gauge piece) in maxillary antrum. The wall separating the maxillary antrum and cysts might be very thin which could have been easily breached or damage during previous surgery leading to direct communication between them. The pack from the cyst cavity might have migrated deep into the maxillary antrum about which the primary surgeon was not aware. So, it is advisable to exercise extra caution and to keep gauge count while operating on jaw cysts in order to avoid the iatrogenic foreign body.