International Journal of Ophthalmology & Visual Science

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Ophthalmological Findings in Goltz Syndrome: A Case Report

Received: 28 December 2019    Accepted: 18 January 2020    Published: 31 January 2020
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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.

DOI 10.11648/j.ijovs.20200501.17
Published in International Journal of Ophthalmology & Visual Science (Volume 5, Issue 1, March 2020)
Page(s) 35-37
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Focal Dermal Hypoplasia, Ectodermal Dysplasia, Microphthalmos

References
[1] Souza IS, Cunha PCAS. Goltz syndrome: report of two cases. An Bras Dermatol. 2003; 78 (1): 91-97.
[2] Deustua SS, Sánchez TM, Fernández RMN, Miranda YE, Rodríguez GE. Goltz's syndrome. Rev Cubana Oftalmol. 2016; 29 (4): 735-40.
[3] Corona-Guerra G X, Ochoa-Apreza M. Focal dermal hypoplasia (Goltz syndrome). Bol Med Hosp Infant Mex. 2018; 75: 178-82.
[4] Tenkir A, Teshome S. Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. BMC Ophthalmology. 2010; 10: 28.
[5] Ghosh SK, Dutta A, Sarkar S, Nag SS, Biswas SK, Mandal P. Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India. Indian J Dermatol. 2017; 62 (5): 498-504.
[6] Acosta JC, Motta A, Prieto JC. Hipoplasia dérmica focal (síndrome de goltz): amplia variabilidad fenotípica. Rev Argent Dermatol. 2009; 90: 224-9.
[7] Lasocki AL, Stark Z, Orchard D. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. Australasian Journal of Dermatology. 2011: 52, 48–51.
[8] Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet Part C (Semin Med Genet). 2016; 172C: 9-20.
[9] Torres MA, Castillo G, Aguilar K, Posso V, Aguilar Y, Luis E, et al. Focal dermal hypoplasia. J Dermat Cosmetol. 2017; 1 (4): 90-92.
[10] Bostwick B, Van den Veyver IB, Sutton VR. Focal Dermal Hypoplasia. 2008 May 15 [Updated 2016 Jul 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
[11] Barrera MEM, Garibay AR, Álvarez EG, Pérez MB. Hipoplasia dérmica focal (Síndrome de Goltz). Rev Cent Dermatol Pascua. 2014; 23 (1): 1–6.
[12] H. Gammaz, H. Amer, A. Adly and A. Mohsen. Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report and Review of Literature. Egyptian Dermatology Online Journal. 2010; 6 (1): 13.
[13] Alsharif S, Hindi S, Khoja F. Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review. Case Rep Dermatol 2018; 10: 101–9.
[14] Deidrick KK, Early M, Constance J, Stein M, Fete TJ. Cognitive and psychological functioning in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016; 172C: 34-40.
[15] Lee S, Choe SJ, Ahn SK. Almost Unilateral Focal Dermal Hypoplasia. Ann Dermatol. 2017; 29 (1): 91–4.
Author Information
  • Ivo Corrêa-Meyer Institute, Porto Alegre, Brazil

  • Ivo Corrêa-Meyer Institute, Porto Alegre, Brazil; Medical School, Federal University of Health Sciences, Porto Alegre, Brazil

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    Carolina da Silva Mengue, Manuel Augusto Pereira Vilela. (2020). Ophthalmological Findings in Goltz Syndrome: A Case Report. International Journal of Ophthalmology & Visual Science, 5(1), 35-37. https://doi.org/10.11648/j.ijovs.20200501.17

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    Carolina da Silva Mengue; Manuel Augusto Pereira Vilela. Ophthalmological Findings in Goltz Syndrome: A Case Report. Int. J. Ophthalmol. Vis. Sci. 2020, 5(1), 35-37. doi: 10.11648/j.ijovs.20200501.17

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    AMA Style

    Carolina da Silva Mengue, Manuel Augusto Pereira Vilela. Ophthalmological Findings in Goltz Syndrome: A Case Report. Int J Ophthalmol Vis Sci. 2020;5(1):35-37. doi: 10.11648/j.ijovs.20200501.17

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  • @article{10.11648/j.ijovs.20200501.17,
      author = {Carolina da Silva Mengue and Manuel Augusto Pereira Vilela},
      title = {Ophthalmological Findings in Goltz Syndrome: A Case Report},
      journal = {International Journal of Ophthalmology & Visual Science},
      volume = {5},
      number = {1},
      pages = {35-37},
      doi = {10.11648/j.ijovs.20200501.17},
      url = {https://doi.org/10.11648/j.ijovs.20200501.17},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.ijovs.20200501.17},
      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.},
     year = {2020}
    }
    

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    AB  - 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.
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