Blau syndrome

Lots of small reddish-brown papules on the forearm of a patient with Blau syndrome

The Blau syndrome (English: Blue's syndrome , arthrocutaneouveal granulomatosis , granulomatous periorificial dermatitis , facial Afro-caribbean childhood eruption FACE ) is a relatively rare genetic disease . The syndrome is named after the American pediatrician Edward Bernard Blau .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

causes

The disease has a simple, autosomal dominant inheritance . There are mutations in the NOD2 gene, which codes for the NOD2 receptor .

clinic

People have a lumpy ( papular ) rash, sometimes inflammation of the choroid membrane and inflammation of the joints . Histologically one finds a in the investigation of the skin granulomatous chronic inflammation of sarcoidosis is very similar. In contrast to this disease, however, the lungs are usually not involved in Blau syndrome.

The disease usually requires intensive, lengthy therapy.

Edward B. Blau , director of a pediatric clinic in Marshfield , Wisconsin , described the syndrome in November 1985 using a family of eleven affected members over four generations. As early as May of the same year, Douglas A. Jabs had described another family with three family members.

It has been associated with camptodactyly and Crohn's disease .

Individual evidence

1. ↑ whonamedit.com ( Memento of the original from April 29, 2014 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. whonamedit. 
2. ↑ Blau syndrome. In: Orphanet (Rare Disease Database).
3. ↑ Blau syndrome.  In: Online Mendelian Inheritance in Man . (English)
4. ↑ EB blue: Familial granulomatous arthritis, iritis, and rash. In: J Pediatr . 1985 Nov; 107 (5), pp. 689-693.
5. ↑ DA Jabs, JL Houk, WB Bias, FC Arnett: Familial granulomatous synovitis, uveitis, and cranial neuropathies. In: Am J Med. 1985 May; 78 (5), pp. 801-804.
6. ↑ RS Geha, LD Notarangelo: The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee. In: Journal of Allergy and Clinical Immunology. 120 (4), 2007, pp. 776-794. doi: 10.1016 / j.jaci.2007.08.053 . PMC 2601718 (free full text). PMID 17952897 .

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