A case report of a female patient with Brooke-Spiegler syndrome

Abstract

Brooke-Spiegler syndrome is a rare autosomal dominant hereditary disease with variable penetration. The syndrome is manifested by the appearance of three types of tumors: multiple cylindromas, trichoepitheliomas and spiradenomas. Tumors can cover the entire scalp in the form of turban, so Turban tumor is usually a synonym for this disease. We presented a patient with a typical clinical picture of Brooke-Spiegler syndrome, who has a positive family history (mother, two sisters, brother and niece). Recommended therapy for this syndrome is surgical treatment. She did not accept surgical treatment, because she was afraid of losing her hair.

Brooke-Spiegler sindrom je retko autozomno dominantno nasledno oboljenje s varijabilnom penetracijom gena. Sindrom se manifestuje pojavom tri tipa tumora: multipli cilindromi, trihoepiteliomi i spiradenomi. Tumori mogu da prekriju čitavu poglavinu u vidu turbana, tako da se kao sinonim za ovu bolest koristi i naziv Turban tumor. U radu je iznet prikaz slučaja bolesnice, starosti 48 godina, s tipičnom kliničkom slikom Brook-Spiegler sindroma, koja ima pozitivnu porodičnu anamnezu. Brook-Spiegler sindrom ispoljio se kod majke, dve sestre, brata i sestričine naše bolesnice. Kao terapija ovog sindroma preporučuje se hirurško lečenje, koje je naša bolesnica odbila iz ličnih razloga zbog straha od gubitka kose.