A Rare Case of Focal Dermal Hypoplasia: Goltz Syndrome; Goltz Gorlin Syndrome

Abstract

: Focal dermal hypoplasia, popularly known as the goltz syndrome, is an extremely rare multisystem disorder mainly involving the skin, skeletal system, and eyes. Being an X-linked dominant disorder, focal dermal hypoplasia mainly affects females (95%) and is lethal in males. Few affected males who survive are mosaics. The mutation is found on the PORCN gene on the X chromosome. Only about 250 - 300 cases have been reported in the literature. It is a type of ectodermal dysplasia interrupting the development and functioning of the skin, hairs, nails, teeth, eyes, and the skeletal system. Accordingly, a wide variety of clinical manifestations are noticed, the diagnosis of which is primarily on a clinical basis. The present study reports one such case of goltz syndrome presented with a giant cell tumor of the right distal fibula, ie, a minor criterion for diagnosing goltz syndrome. Further detailed examination led to the diagnosis of goltz syndrome. We wish to highlight the importance of minor criteria and the major ones to diagnose goltz syndrome. The patient had skin lesions since birth and had no complaints associated with it. It was the pain and swelling associated with the giant cell tumor that brought the case to notice of physician.