Wczesna diagnostyka zespołu nabłoniaków znamionowych – podłoże genetyczne, obraz kliniczny i leczenie

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disease that is inherited in an autosomal dominant manner. The full diagnostic criteria based on the analysis of 150 cases were defined by Gorlin and Goltz in 1960 [1]. It is a genetic disorder that is caused by mutation of the PTCH1 gene located at locus 9q22.3 [2]. Symptoms of the syndrome usually manifest themselves around the age of 20. However, in some patients they can already be seen in childhood. In the initial phase, so called lesional, there are numerous outbreaks of basal cell carcinoma (BCC) and numerous subcutaneous cysts. Other characteristics are also skin lesions in the form of indentations on the hands and feet, which occur in about 75% of cases. They are a result of disruption of the keratinization process and have the form of depressions with a diameter of 2–3 mm and a depth of 1–3 mm. Most patients have skeletal defects in the ribs – fusion, duplication, and additional ribs. And within the spine – spina bifida, scoliosis and kyphoscoliosis and within the bones of the hands in the form of shortening the fourth metacarpal bone [3]. An important symptom is the presence of keratinizing cysts (keratocysts) of the jaw and mandible. Changes in the bones of the jaw and mandible may be accompanied by conditions such as swelling and dull pain in the affected bone. Spontaneous cyst rupture and oral fistula may occur. Cysts can disrupt the position of teeth, cause their displacement and pathological mobility. Changes in the structure of the skull are significant and manifest themselves in prominent frontal tumors, often thickened, massive eyebrows, and wide nose. Hypertelorism of varying severity is encountered. Gorlin-Goltz syndrome may also be accompanied by cancers of other organs, e.g. medulloblastoma or ovarian fibroma. For this reason, it is referred to as genodermatosis accompanying the cancer process. The diagnosis of this syndrome is based on the presence of symptoms that are divided into major – BCC > 2 or more or 1 BCC in patient < 20 years, maxillary or mandibular KOT (keratocystis odontogenic tumor), pitted depressions on hands or feet ≥ 3 lesions, calcification on falx cerebri and minor symptoms – macrocephaly, congenital malformations: for example cleft lip/palate, syndactyly, ovarian fibroma, vertebral anomalies, skeletal abnormalities. The criteria for diagnosis are two major symptoms or one major symptom plus at least two minor symptoms. Dermoscopy is a useful tool...


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