Open AccessOcular manifestations in lipoid proteinosis: A rare clinical entity
Author(s) -
Sumana J Kamath,
Himabindu Marthala,
BinduMadhavi Manapragada
Publication year - 2015
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.171517
Subject(s) - medicine , pathognomonic , genodermatosis , dermatology , pathology , rare disease , disease , biochemistry , chemistry , gene
Lipoid proteinosis is a rare autosomal recessive genodermatosis with abnormal lipid protein complexes deposition in different parts of the body, especially in the skin and mucus membranes of the upper aerodigestive tract. Though ocular involvement in lipoid proteinosis is rare, ophthalmologists may encounter diverse ocular complications accompanying this syndrome in clinical practice. We describe a case of lipoid proteinosis involving bilateral eyelids with pathognomonic moniliform blepharosis in a 33-year-old gentleman who presented with the complaints of itching of eye lids on and off since 10 years.