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.
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http://dx.doi.org/10.1016/j.jaapos.2017.05.011 | DOI Listing |
Front Immunol
November 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
Rheumatol Immunol Res
September 2024
Department of Rheumatology and Immunology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, Henan Province, China.
Front Immunol
October 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
ChemMedChem
January 2025
Department, Normandie Univ, UNICAEN, CERMN, bd Becquerel, F-14000, Caen, Cedex, France.
Microorganisms
September 2024
Department of Biomedical Science, University of Sassari, 07100 Sassari, Italy.
Human endogenous retroviruses (HERVs) are remnants of ancient retroviral infections that, over millions of years, became integrated into the human genome. While normally inactive, environmental stimuli such as infections have contributed to the transcriptional reactivation of HERV-promoting pathological conditions, including the development of autoimmunity, neurodegenerative disease and cancer. What infections trigger HERV activation? subspecies (MAP) is a pluripotent driver of human disease.
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