Undiagnosed nevus of Оta, facial hemiparesis and esotropia: a case report

Abstract

Introduction. Perinatal history is often underrated in ophthalmologic consultation. Nevertheless, an adequate interrogation of prenatal, perinatal, and postnatal issues may provide important information in order to establish an assertive diagnosis.Goltz syndrome or focal dermal hypoplasia is a rare multisystemic disease that involves the ectoderm, mesoderm, and endoderm. It is an X-linked dominant disease caused by the mutation of the PORCN gene. These patients present mainly vermiculate dermal atrophy, outpouchings of fat, telangiectasias, and hypopigmentation. They also present periorificial raspberry-like papilloma, dystrophic nails, sparse hair, abnormal teeth, split hand or foot, and ocular anomalies (microphthalmia). [1]. Three major findings of the skin/nails and one from limbs are necessary to make the clinical diagnosis. The case of a patient who was evaluated in two hospitals as a child and misdiagnosed with Goltz syndrome is described below.Sometimes when multiple findings are found on patient´s physical examination, quickly we think of a syndrome, however, there may be several diseases manifesting at the same time in the patient and not being entirely related to each other. A thorough interrogation provides the required background for medical reasoning, especially when the patient has been misdiagnosed in previous medical visits with other physicians. In this paper we substantiate this statement by describing a case of a 33-year-old woman who was misdiagnosed since childhood with Goltz syndrome, which delayed proper treatment.