A young male presented with a painful mass of the right mandibula due to keratocysts accompanied by other skeletal anomalies and multiple skin lesions.
A 15 year old male presented at the maxillofacial surgery department with a painful mass of the right mandible since four weeks. Examination revealed swelling and signs of inflammation of the right mandibular region. At clinical examination a right frontotemporal scar (due to prior surgery in 1997 because of necrotizing fasciitis) and a prominent skull circumference (due to Arnold Chiari malformation with hydrocephalus in 1996) was found. Routine laboratory tests were normal. There was no family history of known disorders.
Maxillofacial CT (Fig.1) showed multiple odontogenic keratocysts in the maxilla and mandibula. An anteroposterior skull radiograph (Fig.2) showed cystic lesions of the jaw as well as a vertical orientated linear calcification within the falx cerebri (retrospectively visible on CT with additional calcification of the tentorium). A radiograph of the cervical spine (Fig.3) revealed a Th 4 hemivertebra. The combination of these skeletal findings suggested Gorlin’s Syndrome.
Odontogenic cysts were enucleated followed by bone reconstruction and repair of impacted molars. The cyst was proved to be keratocysts and the diagnosis of Gorlin’s syndrome was confirmed. Consultation of a dermatologist revealed 2 cutaneous abnormalities: supra-auricular and occipital. These shiny, partially pigmented plaques of the skin turned out to be basal cell carcinomas.
Gorlins’s syndrome – also known as naevoid basal cell carcinoma syndrome (NBCCS) or basal cell naevus syndrome - is an inherited autosomal dominant multisystem disorder which is mapped to chromosome 9. It was described by Gorlin and Goltz in 1960. Its frequency ranges from 1/60,000 to 1/164,000. Gorlin and Goltz described a triad of nevoid basal-cell carcinomas, jaw cysts and vertebral abnormalities. Later on, multiple other associated abnormalities have been described. The most common are intracranial calcifications, plantar and palmar pits, brachydactyly and bifid ribs. Other skeletal findings might include hypoplastic mandible, large calvarium, frontal bossing, bridging of the sella turcica, hyperpneumatizations of the sinuses, pectus deformity and spinal anomalies (i.e. scoliosis, spina bifida, fusion of spinous processes, square-shaped vertebrae, vertebral osteoporosis and lumbarization of the sacrum). Also flame-shaped lytic lesions might be included. These have been described as hamartomas consisting of fibrous connective tissue, vessels and nerves.
Patients with Gorlin’s syndrome are at risk to neoplasms including cutaneous melanoma, basal cell carcinoma, medulloblastoma, meningioma, non-Hodgkin’s lymphoma, breastcarcinoma, ovarian fibroma, fibrosarcomas as well as cardiac tumours.
The diagnosis can be made when two major criteria or one major and one minor criterion are fulfilled. The major criteria are: basal-cell carcinoma or basal cell naevus, odontogenic keratocysts, three or more palmar or plantar pits, ectopic calcification or a family history of Gorlin’s syndrome. Minor criteria are based on the following items: congenital skeletal anomaly (bifid, fused or missing ribs, or bifid, wedged or fused vertebra), frontal bossing, cardiac or ovarian fibroma, medulloblastoma, lymphomesenteric cysts and other congenital malformations (cleft lip, polydactyly, cataract, microphtalmos and coloboma).
Our patient had three major (odontogenic keratocysts, calcification within the falx cerebri and basal-cell carcinoma) and one minor criterion (hemivertebra).
Early diagnosis and treatment of patients with Gorlin’s syndrome is very important especially considering the risk of developing malignancies but also because of possible oromaxillofacial deformation. The management of patients with Gorlin’s syndrome involves frequent follow up between the ages of puberty and 35 years. Surgical removal of both the cutaneous lesions and mandibular cysts is advocated due to their aggressive nature. Radiotherapy is contraindicated since patients can be particularly sensitive to ionizing radiation. Due to the high risk of inheriting this disease, genetic counseling is highly recommended.
Gorlin’s Syndrome or Nevoid Basal Cell Carcinoma syndrome (NBCCS).
Based on the provided imaging (CT and X-ray plain films) and the patient’s clinical information, the following main features are observed:
• Multiple cystic lesions in the right mandible, morphologically consistent with odontogenic keratocysts;
• Calcification in the falx cerebri region visible on cranial CT;
• The spinal X-ray suggests hemivertebrae in some vertebral bodies;
• Both clinical examination and imaging indicate lesions of basal cell carcinoma and multiple skin lesions.
Considering the patient’s age, clinical manifestations (multiple odontogenic keratocysts, skin lesions, intracranial calcification, vertebral anomalies), and family history, the following diagnoses or differential diagnoses should be considered:
Considering the patient’s current clinical symptoms, imaging findings (multiple odontogenic keratocysts, falx cerebri calcification, vertebral anomalies), and the pathologically confirmed basal cell carcinoma lesions, the presentation meets the diagnostic criteria for Gorlin Syndrome (also known as Nevoid Basal Cell Carcinoma Syndrome, NBCCS).
Treatment Strategy:
• Surgical resection of the odontogenic keratocysts in the mandible is recommended to prevent local invasion and bone destruction;
• The confirmed basal cell carcinoma lesions also require surgical removal, followed by close postoperative follow-up;
• If other lesions with malignant potential or high-risk findings are suspected (e.g., ovarian or central nervous system tumors), regular imaging or clinical follow-ups should be conducted;
• Radiation therapy should be avoided as much as possible, given the hypersensitivity of Gorlin syndrome patients to ionizing radiation;
• Genetic counseling and family screening are advised to assess hereditary or offspring risks.
Rehabilitation and Exercise Prescription (FITT-VP Principle):
1)Frequency: Aerobic or light resistance training 3–4 times a week, adjusted according to subsequent bone and oral conditions.
2)Intensity: Primarily low to moderate intensity (e.g., 50–60% of maximum heart rate), ensuring the patient can maintain normal conversation during exercise.
3)Time: Each session should last 20–30 minutes initially, gradually extending to 40 minutes, depending on individual bone and soft tissue recovery and tolerance.
4)Type: Emphasize low-impact activities, such as brisk walking, swimming, or using a stationary bike, to reduce stress on the mandible and involved skeletal structures.
5)Progression: After confirmed wound healing and stable bone structure, gradually increase exercise volume and intensity. Reassess exercise tolerance and overall condition every 2–4 weeks.
During rehabilitation training, the following should be closely monitored:
• After mandibular surgery and dental treatment, follow the maxillofacial surgeon’s rehabilitation instructions and avoid excessive jaw loading or wide mouth opening;
• If spinal abnormalities (e.g., hemivertebrae) are present, focus on maintaining spinal stability during exercise, supplemented by lumbar and back muscle strengthening;
• Avoid activities with a high risk of impact to reduce the chance of injury.
The above report is a reference analysis based on the available information and cannot replace an in-person clinical consultation and professional medical opinion. A specific treatment plan should be determined based on the patient’s actual condition and the comprehensive assessment by a specialist.
Gorlin’s Syndrome or Nevoid Basal Cell Carcinoma syndrome (NBCCS).
