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

Ausgestellt von

Beyond the Diagnosis

Mehr von Beyond the Diagnosis

Thanatophoric Skeletal Dysplasia , Robert Francis Whelan
Beyond the Diagnosis
Visit us
Beyond the Diagnosis
Fabry Disease , Jota Leal
Beyond the Diagnosis
Our sponsors
Beyond the Diagnosis
Aarskog Syndrome , Kelliann Jarasitis
Beyond the Diagnosis