Specific systemic disorders associated with diffuse ganglioneuromatosis presenting characteristic clinical stigmata such as, mucosal neuromas and marfanoid habitus in MEN2B, cafe’-au-lait spots and cutaneous neurofibromas in NF1, or trichilemmomas and “cobblestone” tongue lesions as in Cowden syndrome, were absent in the present case. Here, RET is linked to Cowden disease.