BACKGROUND The association between cutaneous granular cell tumors and systemic defects is extremely rare, this being the tenth case reported in the literature. The reported defects in the literature include lentiginosis, face and skull alterations, heart defects, muscular and neural pathologies, among other sporadic defects in other organs. The patients do not present visceral granular cell tumors. CASE REPORT An 11-year-old girl had 124 skin granular cell tumors associated with face and skull defects, pulmonary stenosis, EEG and other neurologic alterations, diffuse muscle hypotonia, and an excess of finger joint mobility. CONCLUSIONS The combination of multiple cutaneous granular cell tumors with repeated alterations in other organs seems to be more than simply coincidental, thus suggesting a syndromic separate entity.