TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings

Abstrakt

We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Of total of 13 cutaneous lesions studied.

In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test.

Klíčová slova

• TSC2/PKD1
• contiguous
• syndrome
• report
• cases
• emphasis
• dermatopathologic
• findings