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

Síndrome de Rothmund-Thomson e achados da superfície ocular: casos clínicos e revisão da literatura

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.

Keywords:
Rothmund-Thomson syndrome; Eye disease; Keratitis; Ectodermal displasia; Skin disease