Goltz Syndrome with Multiple Giant-Cell Tumor-Like Lesions in Bones

Abstract

A girl with Goltz syndrome manifested focal dermal hypoplasia, pigmentation of the skin, large low-set ears, syndactyly, asymmetry of the legs, and absence of digits and a portion of sacrum, as well as short carpal and tarsal bones. She developed recurrent papillomata of lips and tongue. She also developed hitherto undescribed giant-cell tumor-like lesions, involving short as well as long bones, that are not caused by hyperparathyroidism or giant-cell tumors and probably are an associated inherent mesodermal defect. These features suggest a mesodermal dysplasia.