Gorlin-Goltz syndrome – A rare hereditary disorder and a diagnostic challenge
Gorlin-Goltz syndrome is a rare genodermatosis inherited in an autosomal dominant manner, which associates the development of multiple basal cell carcinomas with other disorders, such as jaw odontogenic cysts, palmar and plantar pits, calcification of the falx cerebri and various skeletal abnormalities.
We report on the case of a 36 year old male patient, from the rural area, who addresses our clinic presenting multiple tumoral lesions located on the face, ears and trunk, some of them ulcerated. The TC examination proved the calcification of falx cerebri and confirmed the clinically diagnosed macrocephaly while the chest X-ray revealed the presence of a bifid rib. In the case we are presenting, the diagnosis was certified by the presence of 4 major criteria (multiple basal cell carcinomas which had occurred before the age of 20 years, calcification of the falx cerebri, multiple palmar pits and the presence of a bifid rib) and 2 minor criteria (macrocephaly and frontal bossing).
The recognition of the hallmarks of this condition by the dermatologist, paediatrician or family doctor can significantly contribute to an early diagnosis, an aspect of paramount importance that may contribute to decreasing the severity of certain complications, such as cerebral and cutaneous malignant tumors.