Abstract
Focal dermal hypoplasia, or Goltz Syndrome, is a rare genetic x-linked autosomal dominant disorder. It affects multiple organs and systems, generally unilaterally, with extensive clinical variability. Despite the syndrome’s manifestations being predominantly cutaneous, the visual system also suffers characteristic alterations that are worthy of better elucidation. It is a rare disease that is little described in the literature, including in the area of ophthalmology. The objective of this paper is to report on a case we attended to and to discuss existing evidence about this syndrome. EVRS, female sex, 11 months old, referred to the Ophthalmology Service for assessment. Born at 29 weeks, cesarean section, transverse fetal position at birth, weighing 1620g at birth, born with several malformations. Given her phenotypic characteristics, the patient had already been diagnosed as having Goltz syndrome. Ophthalmological examination shows microphthalmia, nystagmus and esotropia in both eyes. Presence of asymmetric corneal opacity, bilateral aniridia and extensive coloboma of the lower retina in the right eye. Opaqueness of cornea and lens in the left eye, making it impossible to see the fundus oculi. The patient remained hospitalized in a neonatal ITU for 4 months from birth, and was discharged in a good overall state, weighing 3370g, receiving diet for gastrostomy. Continues to have multidisciplinary follow-up. This case has reported non-ophthalmological and ophthalmological alterations characteristic of Goltz syndrome, as well as other rare and interesting alterations. Studying them is necessary in medical practice to ensure adequate diagnosis and follow-up of these patients.
Highlights
Focal dermal hypoplasia, or Goltz Syndrome, is a rare genetic x-linked autosomal dominant disorder
After being initially described by Lieberman in 1935, Goltz et al in 1962 [5] and Gorlin et al in 1963 outlined the main characteristics of the syndrome [1]. It mainly affects the female sex, in 90% of cases, and for the most part is lethal for male fetuses [1, 6,7]
Despite the syndrome’s manifestations being predominantly cutaneous, the visual system suffers characteristic alterations that are worthy of better elucidation
Summary
Goltz Syndrome, is a rare genetic x-linked autosomal dominant disorder It affects multiple organs and systems, generally unilaterally, with extensive clinical variability [1,2,3,4,5,6]. After being initially described by Lieberman in 1935, Goltz et al in 1962 [5] and Gorlin et al in 1963 outlined the main characteristics of the syndrome [1]. It mainly affects the female sex, in 90% of cases, and for the most part is lethal for male fetuses [1, 6,7]. It is a rare disease that is little described in the literature, including in the area of ophthalmology
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