A Case of Focal Dermal Hypoplasia

Kim, Chang Duk; Ryoo, Young Wook; Lee, Kyu Suk

Abstract

Focal dermal hypoplasia or Goltz syndrome is a rare genetic mesodermal and ectodermal disorder characterized by variable multisystem defects, including anomalies of the skin, skeleton, teeth and eyes. The disorder appears to be lethal in males and there is a large dominance of female cases; hence, X-linked dominant inheritance has been postulated. A 10-year-old female patient presented with soft extruding nodules on the hyperpigmented patch on the right leg, reticulated hyperpigmentd patches and plaques scattered over the trunk and extremities, and focal alopecia on the scalp. In addion to the skin lesions, this patient showed syndactyly of the right 2nd, 3rd fingers and 4th, 5th fingers, developmental anomaly of the right foot including syndactyly and hypoplasia of the toes, hemiatrophy of the right side of the face, and irregular spacing of teeth and malocclusion. Histopathological findings of soft pinkish nodule on the right leg revealed very thin layered collagen fibers on the dermis and presence of adipose tissue very near to the epidermis that largely replaced the upper dermis.