Blau syndrome

Blau syndrome

Coarse facial features in a boy with Blau syndrome
Classification and external resources
OMIM 186580
DiseasesDB 32725
Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome

Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas, comprising an autosomal dominantly inherited syndrome that overlaps both sarcoidosis and granuloma annulare.[1][2] Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema.[3] Camptodactyly is another feature, and Crohn's disease occurs in 30%.[4]

It is associated with mutations in the NOD2 (a.k.a. CARD15) gene.

See also

References

  1. ↑ Freedberg et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 983. ISBN 0-07-138076-0.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 149. ISBN 0-7216-2921-0.
  3. ↑ Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE (February 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.
  4. ↑ Geha RS, Notarangelo LD (October 2007). "The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee". Journal of Allergy and Clinical Immunology 120 (4): 776–794. doi:10.1016/j.jaci.2007.08.053. PMC 2601718. PMID 17952897.

Bibliography