Skelettale und kutane Charakteristika des nävoiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom)

Abstract

In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150,000 and diagnosis of this syndrome is often an accidental finding of radiological investigations. The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies. Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed. Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria. The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri. Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments. The average age at the time of diagnosis of NBCCS was 49.9 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients). There was no gender-related or age-related predilection and only one patient was affected with pain in his fingers which radiologically correlated to small cystic bone lesions ("flame-shaped lucencies"). Due to limitations in identification of mutations in the PTCH1 gene, clinical and radiological examination still remains a very important factor in the treatment of patients suffering from NBCCS. The knowledge of the varied skeletal manifestations and constellations is therefore essential and correlates with therapeutic consequences. Often chest, rib, spine, skull, and jaw X-rays show the way. Due to the risk of the development of an associated medulloblastoma, neurological surveillance in 6-month intervals in addition to an annual MRI of the cerebrum up to an age of 7 is strongly recommended.