Blau syndrome: Difference between revisions
m Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}) |
No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | |||
{{SI}} | {{SI}} | ||
{{CMG}}; {{AE}} {{Sahar}} | |||
{{SK}} | |||
==Overview== | ==Overview== | ||
'''Blau syndrome''' is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an [[autosomal dominant|autosomal dominantly]] inherited syndrome that overlaps both sarcoidosis and granuloma annulare.<ref name="Fitz2">Freedberg, et. al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0071380760.</ref>{{rp|983}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0721629210.</ref>{{rp|149}} Restated, blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.<ref name="pmid17223962">{{cite journal |author=Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE |title=Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation |journal=Clin. Exp. Immunol. |volume=147 |issue=2 |pages=227–35 |year=2007 |month=February |pmid=17223962 |pmc=1810472 |doi=10.1111/j.1365-2249.2006.03261.x |url=}}</ref>{{rp|232}} | '''Blau syndrome''' is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an [[autosomal dominant|autosomal dominantly]] inherited syndrome that overlaps both sarcoidosis and granuloma annulare.<ref name="Fitz2">Freedberg, et. al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0071380760.</ref>{{rp|983}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0721629210.</ref>{{rp|149}} Restated, blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.<ref name="pmid17223962">{{cite journal |author=Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE |title=Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation |journal=Clin. Exp. Immunol. |volume=147 |issue=2 |pages=227–35 |year=2007 |month=February |pmid=17223962 |pmc=1810472 |doi=10.1111/j.1365-2249.2006.03261.x |url=}}</ref>{{rp|232}} | ||
==Historical Perspective== | |||
*Blau syndrome was first discovered by Dr. Edward B. Blau, in 1985 following observation of a four-generation family with a variety of symptoms including granulomatous arthritis, iritis, and skin rash.<ref name="Blau1985">{{cite journal|last1=Blau|first1=Edward B.|title=Familial granulomatous arthritis, iritis, and rash|journal=The Journal of Pediatrics|volume=107|issue=5|year=1985|pages=689–693|issn=00223476|doi=10.1016/S0022-3476(85)80394-2}}</ref> | |||
*In 19??, NOD2 mutations were first implicated in the pathogenesis of Blau syndrome. | |||
==Classification== | |||
*There is no established system for the classification of Blau syndrome. | |||
==Pathophysiology== | |||
*The exact pathogenesis of Blau syndrome is not fully understood. However, it is caused by a mutation in the NOD2 gene. | |||
*The dieases is inherited in a autosomal dominant mode. | |||
*This gene encodes a protein called xxxx, involving in the .... | |||
*NOD2 mutation leads to overactivation of xxxxx which may trigger an exaggerated inflammatory response. | |||
==Causes== | |||
*Blau syndrome may be caused by mutation in NOD2 gene. | |||
==Differentiating Blau syndrome from Other Diseases== | |||
Blau syndrome must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3]. | |||
== References == | == References == | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 16:38, 17 July 2019
|
WikiDoc Resources for Blau syndrome |
|
Articles |
|---|
|
Most recent articles on Blau syndrome Most cited articles on Blau syndrome |
|
Media |
|
Powerpoint slides on Blau syndrome |
|
Evidence Based Medicine |
|
Clinical Trials |
|
Ongoing Trials on Blau syndrome at Clinical Trials.gov Trial results on Blau syndrome Clinical Trials on Blau syndrome at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on Blau syndrome NICE Guidance on Blau syndrome
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on Blau syndrome Discussion groups on Blau syndrome Patient Handouts on Blau syndrome Directions to Hospitals Treating Blau syndrome Risk calculators and risk factors for Blau syndrome
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for Blau syndrome |
|
Continuing Medical Education (CME) |
|
International |
|
|
|
Business |
|
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Synonyms and keywords:
Overview
Blau syndrome is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an autosomal dominantly inherited syndrome that overlaps both sarcoidosis and granuloma annulare.[1]:983[2]:149 Restated, blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.[3]:232
Historical Perspective
- Blau syndrome was first discovered by Dr. Edward B. Blau, in 1985 following observation of a four-generation family with a variety of symptoms including granulomatous arthritis, iritis, and skin rash.[4]
- In 19??, NOD2 mutations were first implicated in the pathogenesis of Blau syndrome.
Classification
- There is no established system for the classification of Blau syndrome.
Pathophysiology
- The exact pathogenesis of Blau syndrome is not fully understood. However, it is caused by a mutation in the NOD2 gene.
- The dieases is inherited in a autosomal dominant mode.
- This gene encodes a protein called xxxx, involving in the ....
- NOD2 mutation leads to overactivation of xxxxx which may trigger an exaggerated inflammatory response.
Causes
- Blau syndrome may be caused by mutation in NOD2 gene.
Differentiating Blau syndrome from Other Diseases
Blau syndrome must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
References
- ↑ Freedberg, et. al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ↑ Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE (2007). "Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation". Clin. Exp. Immunol. 147 (2): 227–35. doi:10.1111/j.1365-2249.2006.03261.x. PMC 1810472. PMID 17223962. Unknown parameter
|month=ignored (help) - ↑ Blau, Edward B. (1985). "Familial granulomatous arthritis, iritis, and rash". The Journal of Pediatrics. 107 (5): 689–693. doi:10.1016/S0022-3476(85)80394-2. ISSN 0022-3476.