Posters

Two-step surgical management of ocular involvement in a new born with nevus sebaceous syndrome: a case presentation

Poster Details

First Author: C.Fernandez Alcalde SPAIN

Co Author(s): A. Del Hierro Zarzuelo   J. Peralta Calvo   M. Del Piñal              

Abstract Details

Purpose:

Nevus sebaceous syndrome is a rare disease, that manifests as cutaneous hamartomas in craniofacial region and other systemic features. Regarding ocular involvement, ptosis, eyelid and iris coloboma, limbal choristoma, choroid atrophy and cataract can be found. Detailed differential diagnosis must be made when facing congenital ocular choristomas. The main purpose, is to determinate best surgical approach in nevus sebaceous syndrome.

Setting:

A 10 day old new born diagnosed with nevus sebaceous syndrome was brought to our Hospital due to corneal opacity and eyelid malformation, homolateral to cutaneous nevus on the scalp.

Methods:

After  complete systemic and genetic evaluation, the patient went under Ophthalmology’s exam with the following findings: nasal coloboma on upper eyelid of the right eye, palpebral ptosis of MRD1 1 mm and MRD2 2 mm; and stage II limbal choristoma affecting visual axis on superior temporal half of the cornea without Descemet’s involvement. Based on that, a two-step surgical management was proposed. Firstly, we perform an excision of limbal choristoma and a tectonic DALK reconstruction. In a second stage, corneal suture removal, eyelid reconstruction and frontal suspension were conducted.

Results:

Decision making of best surgical technique on stage II choristomas, is complex.  Simple excision has shown poor outcomes. Because of choristoma’s size occluding visual axis and no Descemet’s involvement, a tectonic DALK keratoplasty was performed instead of  penetrating one. Due to risk of ocular perforation, no topical MitomicynC was used. We also performed a pupilloplasty, to enlarge visual axis. After the excision, upper conjunctival fornix remained untouched, so there was no need for amniotic membrane transplantation, and simple reconstruction was made. Two months later, corneal sutures were removed and a frontal suspension of the upper eyelid was performed.

Conclusions:

In case of limbal choristomas affecting visual axis, a prompt surgical approach is recommended due to high risk of amblyopia. Deciding best surgical technique, will rely on extension and corneal involvement. Generally speaking, lamellar keratoplasty is preferred versus penetrating. Conjunctival preservation is key to avoid later fornix retraction. A two-step surgical reconstruction, when other ocular involvement is present could lead to better assessment.

Financial Disclosure:

None