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

2019 ◽  
Vol 5 (1) ◽  
pp. 01-04
Author(s):  
Niharika K Shetty ◽  
◽  
Chethan R Moogi ◽  

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 alopecia. 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.

Author(s):  
Imen Ksiaa ◽  
Safa Ben Aoun ◽  
Sourour Zina ◽  
Dhouha Nefzi ◽  
Sana Khochtali ◽  
...  

Abstract Objective To describe a case of Behçet disease (BD) uveitis manifesting with sequential bilateral neuroretinitis associated with prepapillary inflammatory vitreous exudate (PIVE). Material and methods A single case report documented with multimodal imaging. Results A 37-year-old man developed neuroretinitis with associated PIVE in the left eye. He was diagnosed with ocular toxoplasmosis and treated accordingly based on positive serologic testing and negative work-up for other entities, including BD. The disease course was favorable, but 1 year later a similar neuroretinitis developed in the right eye. Extraocular features of BD became evident only at the time of the second eye involvement, and the patient received corticosteroid and immunosuppressive therapy. Swept source (SS) OCT showed at the acute phase in both eyes a typical “mushroom-shaped” prepapillary hyperreflectivity of the PIVE. SS OCT angiography (OCTA) demonstrated a corresponding prepapillary hypointense area due to shadowing effect, decreasing in size while scanning deeper layers. It also detected peripapillary retinal hypervascularity in both eyes and a sectoral area of flow signal loss in the first involved left eye. Visual acuity improved following the resolution of the PIVE and associated acute inflammatory changes in both eyes. The left eye showed residual optic disc pallor and retinal nerve fiber layer defects. Conclusion Sequential bilateral neuroretinitis associated with PIVE may occur before other clinical features of BD become evident. SS OCT and OCTA can provide useful information for the diagnosis and management of this rare, but typical, ocular manifestation of BD uveitis.


Cortex ◽  
1988 ◽  
Vol 24 (2) ◽  
pp. 347-355 ◽  
Author(s):  
A. Charnallet ◽  
S. Carbonnel ◽  
J. Pellat

2014 ◽  
Vol 6 (3) ◽  
pp. 84-86
Author(s):  
Sonam Sharma ◽  
Amita Sharma ◽  
Ashok Kumar ◽  
Shivani Kalhan ◽  
Jasmine Kaur

Pyogenic granuloma (PG) is a kind of inflammatory hyperplasia in response to chronic irritation. Here, we report a case of 64 year old male patient with PG on midline of the dorsum of the posterior third of the tongue. Its differential diagnosis, the importance of biopsy findings in establishing definitive diagnosis and about the new approaches for its treatment is discussed. DOI: http://dx.doi.org/10.3126/ajms.v6i3.10619Asian Journal of Medical Sciences Vol.6(3) 2015 84-86


2000 ◽  
Vol 32 (8) ◽  
pp. 737-742 ◽  
Author(s):  
M. Bononi ◽  
A. De Cesare ◽  
M.C. Stella ◽  
E. Fiori ◽  
G. Galati ◽  
...  

Cureus ◽  
2016 ◽  
Author(s):  
Jose Martinez-Mas ◽  
Alberto Miranda-Paanakker ◽  
Paloma Gomez-Leal ◽  
Patricia Navarro-Sanchez ◽  
Andres Bueno-Crespo ◽  
...  

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