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Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.
- Source :
-
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2017 Jun; Vol. 21 (3), pp. 249-251. Date of Electronic Publication: 2017 May 19. - Publication Year :
- 2017
-
Abstract
- Blau syndrome is an early-onset granulomatous disease known to affect the skin, joints, and eyes. We report a child with diffuse rash, arthritis, and subconjunctival nodules. Biopsy of the bulbar conjunctiva revealed noncaseating lipogranulomas that lead to a diagnosis of Blau syndrome. To our knowledge, noncaseating lipogranulomas of the conjunctiva have not been reported previously as a presenting finding in Blau syndrome. Although uveitis is the classic manifestation, it is important to broaden the awareness of other ocular signs, as these variations can aid in diagnosis.<br /> (Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Arthritis drug therapy
Arthritis genetics
Conjunctival Diseases drug therapy
Conjunctival Diseases genetics
Farber Lipogranulomatosis drug therapy
Farber Lipogranulomatosis genetics
Fluorometholone therapeutic use
Glucocorticoids therapeutic use
Humans
Infant
Male
Mutation
Nod2 Signaling Adaptor Protein genetics
Sarcoidosis
Synovitis drug therapy
Synovitis genetics
Uveitis drug therapy
Uveitis genetics
Exome Sequencing
Arthritis diagnosis
Conjunctival Diseases diagnosis
Farber Lipogranulomatosis diagnosis
Synovitis diagnosis
Uveitis diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1528-3933
- Volume :
- 21
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
- Publication Type :
- Academic Journal
- Accession number :
- 28532706
- Full Text :
- https://doi.org/10.1016/j.jaapos.2017.05.011