Focal dermal hypoplasia (Goltz syndrome): a decreased accumulation of hyaluronic acid in three-dimensional culture.

Abstract

We report a 28-year-old female with focal dermal hypoplasia, (Goltz syndrome). We compared the growth kinetics and the production of type I collagen and glycosaminoglycans by fibroblasts from affected and unaffected skin. Fibroblasts were grown in conventional medium supplemented with ascorbic acid 2-phosphate, which makes fibroblasts from a tissue-like structure in vitro. The population doubling time of fibroblasts in affected skin was slightly shorter than that of unaffected skin. There was no difference in the levels of the carboxyterminal propeptide of type I procollagen liberated into the media between affected skin and unaffected skin. However, the cell layer of affected skin fibroblasts revealed a decreased amount of hyaluronic acid-derived disaccharide unit (delta Di-HA). The abnormal metabolism of glycosaminoglycan in the affected dermis might be involved in the development of skin changes in focal dermal hypoplasia.