Basilious Alfred, Fung Simon S M, Ali Asim
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.
Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON, Canada; and.
Cornea. 2020 Oct;39(10):1321-1324. doi: 10.1097/ICO.0000000000002393.
To describe the presentation and management of limbal stem cell dysfunction in ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
A retrospective case report.
A 6-day-old male infant was diagnosed with IFAP syndrome based on family history and a mutation detected in the MBTPS2 gene. Initial examination showed hyperkeratotic eyelids, madarosis, and lagophthalmos, but otherwise clear corneas. He developed bilateral central corneal epithelial defects spontaneously 6 months later, which were managed with aggressive lubrication, prophylactic antibiotics, and bilateral permanent lateral tarsorrhaphies at 7 months of age. During the procedure, the patient was noted to have bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, and late fluorescein staining of the corneal surface. Anterior segment optical coherence tomography demonstrated a significantly abnormal and hyperreflective epithelial surface overlying a thinned corneal stroma, suggestive of limbal stem cell dysfunction. The corneal surface was maintained with lubrication and tarsorrhaphy and has remained stable since.
The progressive conjunctivalization, spontaneous epithelial defects, and anterior segment optical coherence tomography features are highly suggestive of limbal stem cell dysfunction in IFAP syndrome. Optimizing the ocular surface is of importance in the management of children with this rare disease.
描述毛囊性鱼鳞病、秃发及畏光（IFAP）综合征中角膜缘干细胞功能障碍的表现及处理。
一项回顾性病例报告。
一名6日龄男婴根据家族史及在MBTPS2基因中检测到的突变被诊断为IFAP综合征。初始检查显示眼睑角化过度、睫毛缺失及兔眼，但角膜其余部分清晰。6个月后他自发出现双侧中央角膜上皮缺损，在7月龄时通过积极润滑、预防性使用抗生素及双侧永久性外侧睑裂缝合术进行处理。手术过程中，注意到患者有双侧角膜缘增厚、周边角膜血管翳伴基质瘢痕形成，以及角膜表面晚期荧光素染色。眼前节光学相干断层扫描显示在变薄的角膜基质上方有明显异常且高反射的上皮表面，提示角膜缘干细胞功能障碍。通过润滑和睑裂缝合术维持角膜表面，此后一直保持稳定。
进行性结膜化、自发上皮缺损及眼前节光学相干断层扫描特征高度提示IFAP综合征中角膜缘干细胞功能障碍。优化眼表对于管理患有这种罕见疾病的儿童很重要。
