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A Rare Case report of Ichthyosis Follicularis, Alopecia and Photophobia (IFAP) Syndrome with developmental cataract

Niharika K Shetty, Professor, Department of Ophthalmology, Sri Siddhartha Medical College and Hospital, Tumakuru, Karnataka527107, India, Chethan R Moogi, Post Graduate, Department of Ophthalmology, Sri Siddhartha Medical College and Hospital, Tumakuru, Karnataka- 527107, India
2019 The Journal of Medical Research  

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Purpose: The IFAP syndrome is a rare X-linked genetic disorder with only 40 reported cases worldwide. We report a 23 year old, male patient with classical IFAP syndrome. Method: Descriptive single case report. Case: 23 years old male patient, presented with ocular findings of photophobia, cornealinfiltrate, superior corneal vascularization and astigmatism along with dermatological manifestations. Result: Photophobia was pathognomonic in a patient presenting with Icthyosisfollicularis and
more » ... a. Associated ocular findings were corneal infiltrate, superior corneal vascularization, angio regression with pericytic infilterate and Astigmatism. Our patient also presented with bilateral developmental cataract. Conclusion: Developmental cataract can be a primary manifestation with IFAP syndrome. Corneal infiltrates with photophobia as the only presenting symptom can be a rare finding associated with rare skin disorders like IFAP syndrome. They are also the most challenging symptoms to manage.
doi:10.31254/jmr.2019.5101 fatcat:hq2a5xagofasxismmcgwy4duo4
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Niharika K Shetty, Professor, Department of Ophthalmology, Sri Siddhartha Medical College and Hospital, Tumakuru, Karnataka527107, India, Chethan R Moogi, Post Graduate, Department of Ophthalmology, Sri Siddhartha Medical College and Hospital, Tumakuru, Karnataka- 527107, India. "A Rare Case report of Ichthyosis Follicularis, Alopecia and Photophobia (IFAP) Syndrome with developmental cataract." The Journal of Medical Research 5.1 (2019) 01-04