Dermatol. praxi. 2016;10(2):88-90 | DOI: 10.36290/der.2016.021

Gorlin-Goltz syndrome

MUDr. Linda Vavříková¹, MUDr. Martin Tichý, Ph.D.¹, MUDr. Martina Bienová, Ph.D.¹, MUDr. Jiří Hyjánek, Ph.D.²

¹ Klinika chorob kožních a pohlavních, FN a LF UP Olomouc

² U. S. G. POL, s. r. o., Olomouc

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant disease caused by mutations in the PTCH gene found on chromosome arm 9q. The syndrome has complete penetrance and variable expressivity. The disease is characterised by multiple basal cell carcinomas in childhood associated with different abnormalities, like abnormalities of skin, odontogenetic jaw keratocysts, congenital abnormalities of skeletal system, ovarian fibromas, abnormalities of genitourinary system and CNS system, hypertelorism, broad nasal root. Tumors begin to appear on the face and trunk in childhood, they are small and resemble milia, small nevi, tags. This period of the disease is known as nevoid period. Oncogene period begins around the age of 20, when basal cell carcinomas become clinically and histologically clear. We report a case of 18year old woman with multiple basal cell carcinomas from the age of 8 with 3 major and 3 minor criterions.

Keywords: Gorlin-Goltz syndrome, Basal cell carcinoma, criterion, therapy

Published: July 1, 2016  Show citation