The clinical features of eight female patients with the oral-facial-digital (OFD) syndrome, including a description of the skin and its histological and pharmacological characteristics are described. The OFD syndrome is characterized in part by a cutaneous dyplasia which includes a marked diminution in sebaceous glands, some decrease in hair follicles, and early keratinous cyst formation, which may represent maldevelopment of the pilosebaceous unit.