Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described. < hr/ > RESUMO A s índrome de Rothmund-Thomson (SRT) é uma dermatose rara com cerca de 300 casos reportados. Os autores descrevem dois irmãos com síndrome de Rothmund-Thomson e doença inflamatória conjuntival com encurtamento do fundo de saco e simbléfaro, assim como doença palpebral com escassez de cilíos. A mbos os casos demonstram achados da superfície ocular diferentes dos habitualmente descritos.
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research