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CLINICAL IMAGES
Year : 2013  |  Volume : 138  |  Issue : 6  |  Page : 1033

A rare case of ichthyosis follicularis, alopecia & photophobia syndrome


Comprehensive Ophthalmology Department Sri Sankaradeva Nethralaya Guwahati 781 028, India

Date of Web Publication11-Feb-2014

Correspondence Address:
Harsh Bhattacharjee
Comprehensive Ophthalmology Department Sri Sankaradeva Nethralaya Guwahati 781 028
India
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Source of Support: None, Conflict of Interest: None


PMID: 24521657

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How to cite this article:
Bhattacharjee H, Yadav A. A rare case of ichthyosis follicularis, alopecia & photophobia syndrome. Indian J Med Res 2013;138:1033

How to cite this URL:
Bhattacharjee H, Yadav A. A rare case of ichthyosis follicularis, alopecia & photophobia syndrome. Indian J Med Res [serial online] 2013 [cited 2019 Dec 12];138:1033. Available from: http://www.ijmr.org.in/text.asp?2013/138/6/1033/126924

A 3 year old boy presented to Sri Sankaradeva Nethralaya, Guwahati, Assam, India, in February 2008 with complaint of photophobia since past six months. He had widespread non-inflammatory exuberant follicular projections over the skin, more pronounced over the extensor extremities, with sparing of palms and soles [Figure 1]A. He had hyperkeratosis of skin over the ears [Figure 1]B, madarosis [Figure 1]C, scanty eyelashes [Figure 1]C hyperkeratosis of lid margin with folliculosis, conjuctival congestion and follicular reaction. The child had alopecia [Figure 1]D. Corneal infiltration was present at the level of epithelium and sub-epithelium [Figure 2]. On the basis of above features, he was diagnosed of ichthyosis follicularis alopecia and photophobia (IFAP) syndrome [1] that is caused by mutation in MBTPS2 gene on chromosome Xp22 [2] . On a follow up at seven years of age, superficial (terminal loop type) and stromal corneal neovascularization was noted [Figure 2]. Symptomatic relief was obtained with dark goggles/glasses and lubricating eye drops.
Figure 1: (A). Lower limb photograph showing dyskeratotic papules (arrow) more pronounced over extensor extremities and distributed symmetrically with sparing of soles. (B). Photograph of the right side of face showing hyperkeratosis of skin over ear lobe (arrow), (C). Madarosis (arrow) and angular chelosis (arrow). (D). Loss of scalp hair.

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Figure 2

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   References Top

1.Rai VM, Shenoi SD. Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome. Indian J Dermatol Venerol Leprol 2006; 72 : 136-8.  Back to cited text no. 1
    
2.Ding YG, Wang JY, Qiao JJ, Mao XH, Cai SQ. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome in a Chinese family. Br J Dermatol 2010; 163 : 886-9.  Back to cited text no. 2
    


    Figures

  [Figure 1], [Figure 2]



 

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