×
About 203 results

ALLMedicine™ Blau Syndrome Center

Research & Reviews  76 results

Common condition with uncommon cause: fungal folliculitis in immunosuppressed patient w...
https://doi.org/10.1136/bcr-2021-243565
BMJ Case Reports; Ebadian M, Barbieri A et. al.

Jun 9th, 2022 - We present a case of a patient with a history of Blau syndrome, who presented with acute onset of widespread florid painful folliculitis rash, which was resistant to the treatment with multiple courses of antibiotics in the community. Despite of t...

Progress in the genetics of uveitis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9042703
Genes and Immunity; Huang XF, Brown MA

Apr 6th, 2022 - Uveitis is the most common form of intraocular inflammatory disease and is a significant cause of visual impairment worldwide. Aetiologically, uveitis can also be classified into infectious uveitis and non-infectious uveitis. The common non-infect...

Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.
https://doi.org/10.1016/j.ophtha.2022.03.014
Ophthalmology Zhong Z, Ding J et. al.

Mar 23rd, 2022 - The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology call for cautious interpretation of variants as causative of a monogenic disorder by stringent standards. We aimed to reclassify the pathogeni...

Blau syndrome: An under-reported condition in India?
https://doi.org/10.4103/jpgm.jpgm_1016_21
Journal of Postgraduate Medicine; Agarwal A, Karande S

Mar 18th, 2022 - Blau syndrome: An under-reported condition in India?|2022|Agarwal A,Karande S,|genetics,diagnosis,diagnosis,genetics,diagnosis,genetics,

see more →

News  5 results

Multiple Eruptive Syringomas on the Penis
https://www.mdedge.com/dermatology/article/201251/pediatrics?channel=44
Weihuang Vivian Ning, MD, Sameer Bashey, MD et. al.

May 20th, 2019 - To the Editor: Syringomas are small, benign, asymptomatic eccrine or apocrine tumors that present as multiple discrete flesh-colored papules. They are more common in females than males.

Multiple Eruptive Syringomas on the Penis
https://www.mdedge.com/dermatology/article/201251/pediatrics
Weihuang Vivian Ning, MD, Sameer Bashey, MD et. al.

May 20th, 2019 - To the Editor: Syringomas are small, benign, asymptomatic eccrine or apocrine tumors that present as multiple discrete flesh-colored papules. They are more common in females than males.

Peering into My Own Genome
https://www.medpagetoday.com/genetics/genetictesting/53088

Aug 16th, 2015 - I have looked into my genome and seen ... nothing much to worry about. I carry 15 rare genetic variants that have been associated with some form of disease, but I am heterozygous for all of them -- I have one intact copy of the same gene. So I car...

Registry Updates Blau Diagnostic Criteria
https://www.mdedge.com/rheumatology/article/41195/rheumatology/registry-updates-blau-diagnostic-criteria
Jennie Smith

Oct 25th, 2011 - The 82 reported cases of Blau syndrome in the 6-year-old international registry are likely far from the entire catalog of affected children. To be included in the registry, cases must involve the mutations in the nucleotide oligomerization domain.

Inflammatory Eye Diseases Call for Careful, Individualized Treatment to Maintain Vision
https://www.mdedge.com/rheumatology/article/43963/lupus-connective-tissue-diseases/inflammatory-eye-diseases-call-careful
Sarah Pressman Lovinger

CHICAGO — Clinicians must become more aware of the prevalence and severity of inflammatory eye diseases, according to Dr. James Rosenbaum, of the Oregon Health and Science University in Portland.

see more →