A case of focal dermal hypoplasia / 대한피부과학회지

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic mesoectodermal disorder characterized by variable multisystem defects, including anomalies of the skin, skeleton, teeth and eyes. A 22-year-old female patient presented with confluent and disciete, yellowish nodules on the calves, white linear atrophic lesions, hypoand hyper!igmented patches, and telangiectasia scattered over the trunk, neck and extremities. In addition to the skin lesions, this patient showed hypertrophy of the left leg, anomalies of the left foot, fingers and nails, and maloccluded teeth. Histopathological findings of a yellow nodule revealed accumulations of adipose tissue very near to the epidermis that largely replaced the upper dermis.