CASE 8163 Published on 25.01.2010

Gorlin\'s syndrome

Section

Musculoskeletal system

Case Type

Clinical Cases

Authors

Brandt Corstius H, Reijnierse M.
Department of Radiology, Leiden University Medical Center, Netherlands.

Patient

15 years, male

Clinical History
A young male presented with a painful mass of the right mandibula due to keratocysts accompanied by other skeletal anomalies and multiple skin lesions.
Imaging Findings
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.
Discussion
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.
Differential Diagnosis List
Gorlin’s Syndrome or Nevoid Basal Cell Carcinoma syndrome (NBCCS).
Final Diagnosis
Gorlin’s Syndrome or Nevoid Basal Cell Carcinoma syndrome (NBCCS).
Case information
URL: https://www.eurorad.org/case/8163
DOI: 10.1594/EURORAD/CASE.8163
ISSN: 1563-4086

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