Atypical Blau Syndrome , Nan Kruzik
[3]

Brody

He is a strong, loving child who has helped many others with a rare disease, but at the same time
has never let it define him. He loves being with family and playing as much as he can. He has a
strong will and soulful spirit.
~Le, Brody’s Mom

Atypical Blau Syndrome

Blau syndrome is a rare condition characterized mainly by skin rash, arthritis, and uveitis. It has variable expressivity and usually affects preschool-age children younger than 4 years of age. Characteristic findings include synovial effusions and cysts, anterior uveitis, and focal posterior synechiae. Permanent bending of the fingers and toes and other findings have also been reported. It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo mutations and occurs sporadically.

Artist: Nan Kruzik

Exposé par :

Beyond the Diagnosis

Plus de Beyond the Diagnosis

Ectodermal Dysplasia , Nan Kruzik
Beyond the Diagnosis
Craniometaphyseal Dysplasia , Vincent Castaldi
Beyond the Diagnosis
H4B
Beyond the Diagnosis
Special Thanks to Our Patrons
Beyond the Diagnosis
Beta-Propeller Protein-Associated Neurodegeneration , Lauren Rudolph
Beyond the Diagnosis