Focal dermal hypoplasia [Goltz syndrome]

ABSTRACT

Focal dermal hypoplasia [Goltz syndrome] is a rare congenital syndrome, found primarily in females. This syndrome is characterized by a wide range of meso-ectodermal defects. We report on 3 cases [one male and 2 females] who had typical manifestations of this syndrome. The skin lesions comprised of linear hypoplasia and vegetating tumors. They had significant skeletal and dental defects, and ocular abnormalities. Histopathologic examination of the skin lesions showed a markedly thinned dermis that was replaced by adipose tissue. About 200 cases of the syndrome have been reported worldwide, but to our knowledge, this is the first report from Iran