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Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.

Cornea - 1 Oct 2020

Basilious Alfred, Fung Simon S M, Ali Asim

Abstract excerpt

PURPOSE: To describe the presentation and management of limbal stem cell dysfunction in ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. METHODS: A retrospective case report. RESULTS: 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...

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PMID: 32482964
DOI: 10.1097/ICO.0000000000002393

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