hrp0086p2-p680 | Growth P2 | ESPE2016

A Case of Growth Hormone Deficiency with Combined Encephalocraniocutaneous Lipomatosis and Jaffe–Campanacci Syndrome

Choi Eun Mi , Shim Ye Jee , Kim Jun Sik , Kim Heung Sik

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...