Novel Association of Blepharophimosis with Xanthoma Tuberosum

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Austin J Clin Ophthalmol. 2015;2(2): 1045.

Novel Association of Blepharophimosis with Xanthoma Tuberosum

Panda Bijnya* and Pujahari Susanta

Department of Ophthalmology, All India Institute Of Medical Sciences, India

*Corresponding author: Panda Bijnya, Department of Ophthalmology, All India Institute Of Medical Sciences, Bhubaneswar, Orissa, India

Received: April 08, 2015; Accepted: April 10, 2015; Published: April 13, 2015

Clinical Image

Six year old male presenting with multiple eruptions over flexure aspect of knees, ankle, buttock, and palms incidentally found to have Blepharophimosis, ptosis, epicanthus inversus syndrome. These co-existing autosomal dominant mutations for BPES and Familial hypercholesterolemia in a single patient has never been reported in literature till date.

Citation: Bijnya P and Susanta P. Novel Association of Blepharophimosis with Xanthoma Tuberosum. Austin J Clin Ophthalmol. 2015;2(2): 1045. ISSN : 2381-9162