Familial Syringomas: An Example of Gonadal Mosaicism

Multiple syringomas may be inherited as an autosomal dominant trait or may occur as segmental or unilateral lesions limited to one generation. We present a man with diffuse involvement whose mother also has unilateral syringomas. No previous generations were affected. We believe that this case represents an example of an autosomal dominant postzygotic mutation that resulted in gonadal mosaicism in the mother.