Diagnosis and Treatment of Patients with Nevoid Basal Cell Carcinoma Syndrome [Gorlin-Goltz Syndrome (GGS)]

Abstract

Background: The nevoid basal cell carcinoma syndrome (NBCC) is a rare and autosomal dominant inherited disease with well-defined characteristics, summarized by Gorlin and Goltz in 1960. In the head and neck region, cerebral calcifications, basal cell carcinoma (BCC) and multiple keratocysts of the jaws are the predominant findings. The aim of this study was to determine the diagnostic findings and the therapy for patients with NBCC. Patients and Methods: The medical files of 17 patients with NBCC, treated in a single institution (females: 9, males: 8) were evaluated. Thirteen patients were also physically investigated, including X-ray diagnosis. Results: The age at the time of first surgical treatment related to the syndrome was 3 to 57 years (mean: 21.3 years). A family history for NBCC was evident for 4 patients. The number of patients with characteristic head and neck findings in the spectrum of NBCC varied: basal cell carcinoma (n=15), keratocysts of the jaws (n=13), cerebral calcification visible on plain radiographs (n=15), palmar pits (n=9). Facial dysmorphism (hypertelorism) was evident in 4, and skeletal anomalies outside the skull occurred in 10 patients. The medical histories revealed a cleft lip and palate in 2, and unilateral kidney agenesis in further 2 patients, emphasizing the variability of the syndrome. Treatment was exclusively surgical in all but 2 patients. One of these 2 patients underwent external irradiation for a BCC of the frontotemporal region. Nine years later a frontal BCC had to be treated. The other developed several other BCC inside and outside the irradiation field. Up to 50 BCC per patient had to be resected. The number of keratocysts of all patients was 66, with a predeliction for the mandibular angle in 44%. On cranial computed tomograms (CCT, n=9) a number of calcifications became evident: falx (8/9), tentorium (9/9), petrosellar ligament (2/9) and carotid siphon (1/9). Cerebral cysts occurred in one third of these patients (3/9). One patient underwent surgery for a medulloblastoma during childhood. In this series of CCT of 9 patients, no cortical atrophy was found. Conclusion: The NBCC is a well-known syndrome with a variety of findings inside and outside the head and neck region. Interdisciplinary cooperation is mandatory in the diagnosis and follow-up control of patients with NBCC.