A Case of Ectrodactyly-ectodermal Dysplasia-cleft Syndrome with Bilateral Epiphora

Sang Min Lee; Jong Seo Park; Helen Lew

doi:10.3341/jkos.2016.57.12.1953

Journal List > J Korean Ophthalmol Soc > v.57(12) > 1010487

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Lee, Park, and Lew: A Case of Ectrodactyly-ectodermal Dysplasia-cleft Syndrome with Bilateral Epiphora

Case Report

J Korean Ophthalmol Soc 2016;57(12):1953-1957.

Published online: 25 September 2016

DOI: https://doi.org/10.3341/jkos.2016.57.12.1953

A Case of Ectrodactyly-ectodermal Dysplasia-cleft Syndrome with Bilateral Epiphora

Sang Min Lee, MD, Jong Seo Park, MD, Helen Lew, MD, PhD

Department of Ophthalmology, CHA Bundang Medical Center, CHA University, Seongnam, Korea

Address reprint requests to Helen Lew, MD, PhD Department of Ophthalmology, CHA Bundang Medical Center, # 59 Yatap-ro, Bundang-gu, Seongnam 13496, Korea Tel: 82-31-780-5330, Fax: 82-31-780-5333 E-mail: eye@cha.ac.kr

Received 25 August 2016 Revised 15 October 2016 Accepted 22 November 2016

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

In the present study, a case of recurrent nasolacrimal duct obstruction as ectrodactyly-ectodermal dysplasia-cleft syndrome is reported.

Case summary

An 18-year-old male complained of epiphora in both eyes. By the age of 1, he was diagnosed with nasolacrimal duct obstruction and received left side dacryocystotomy, both sides silicone tube insertion and, right side endoscopic dacryocystorhinostomy. The general findings showed microdontia and, bilateral ectrodactyly. An irrigation test showed ‘regurgitation without pus' and Jones test showed ‘negative’ in both sides. Complete obstruction was observed on dacryocystography and the patient underwent endoscopic conjunctivodacryocystorhinostomy with Jones tube at right side and endoscopic dacryocystorhinostomy at left side. The chromosome test showed normal findings.

Conclusions

Nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is usually caused by dysplasia of the nasolacrimal duct and accompanied by dysplasia of lacrimal punctum and canaliculus. Providing proper care for nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is important. Furthermore, the high failure rate should be considered.

Keywords: Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) syndrome, Epiphora, Nasolacrimal duct obstruction

References

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Figure 1.

Slit photographs of the patient's punctum. (A) right lower punctum shows cheese wiring shape. (B) left small lower punctum.

Figure 2.

Clinical photographs of the patient. (A, B) Teeth defect. (C, D) Fingers and toes. Odontodysplasia, ectrodactylia of finger and syndactylia of toe were observed.

Figure 3.

The clinical findings of the patients. (A, B) dacryocystographic finding of the patient shows complete obstruction of nasolacrimal duct (right, left). (C, D) Slit photographs of the patient after operation. Jones tube at right side and silicone tube at left side were observed. (E) previous endoscopic dacryocystorhinostomy (DCR) opening was noted at the right side. (F) Neo opening of DCR was created. Severe inflammatory and follicular change at lacrimal sac was observed. OD = oculus dexter; OS = oculus sinister.

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