Ophthalmological Findings in Goltz Syndrome: A Case Report

Carolina da Silva Mengue; Manuel Augusto Pereira Vilela

doi:doi:10.11648/j.ijovs.20200501.17

| Peer-Reviewed

Ophthalmological Findings in Goltz Syndrome: A Case Report

Carolina da Silva Mengue, Manuel Augusto Pereira Vilela

Published in International Journal of Ophthalmology & Visual Science (Volume 5, Issue 1)

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

Views: Downloads:

Download PDF

Share This Article

Twitter
Linked In
Facebook

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.

Published in	International Journal of Ophthalmology & Visual Science (Volume 5, Issue 1)
DOI	10.11648/j.ijovs.20200501.17
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), 2020. 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.

Cite This Article

Plain Text BibTeX RIS

APA Style

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

Copy | Download

ACS 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

Copy | Download

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

Copy | Download

@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://article.sciencepublishinggroup.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}
}

Copy | Download

TY - JOUR
T1 - Ophthalmological Findings in Goltz Syndrome: A Case Report
AU - Carolina da Silva Mengue
AU - Manuel Augusto Pereira Vilela
Y1 - 2020/01/31
PY - 2020
N1 - https://doi.org/10.11648/j.ijovs.20200501.17
DO - 10.11648/j.ijovs.20200501.17
T2 - International Journal of Ophthalmology & Visual Science
JF - International Journal of Ophthalmology & Visual Science
JO - International Journal of Ophthalmology & Visual Science
SP - 35
EP - 37
PB - Science Publishing Group
SN - 2637-3858
UR - https://doi.org/10.11648/j.ijovs.20200501.17
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.
VL - 5
IS - 1
ER -

Copy | Download

Author Information

Carolina da Silva Mengue

Ivo Corrêa-Meyer Institute, Porto Alegre, Brazil
Manuel Augusto Pereira Vilela

Ivo Corrêa-Meyer Institute, Porto Alegre, Brazil

Download PDF

Sections

Plain Text BibTeX RIS

APA Style

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

Copy | Download

ACS 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

Copy | Download

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

Copy | Download

@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://article.sciencepublishinggroup.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}
}

Copy | Download