What Is Blau Syndrome?

Blau syndrome is a medical term used to describe a combination of symptoms primarily affecting the skin, joints, and eyes. This is a genetic condition that can develop only if at least one parent carries a copy of the mutated gene responsible for the development of Blau syndrome, and it can be passed along to a child even if the parent who possesses the defective gene shows no signs of the disorder. Some of the most common symptoms associated with this disorder include rough skin, the development of skin masses known as granulomas, and arthritis. There is no cure for this condition, so management is aimed at treating each specific symptom on an individual basis. Any specific questions or concerns about Blau syndrome should be discussed with a doctor or other medical professional.

Symptoms of Blau syndrome usually begin by the age of five and may change throughout the life of the patient. The skin often appears course or rough, and a variety of skin rashes or disorders may develop. Multiple granulomas, or masses consisting of immune cells, may appear on the skin. Light therapy or prescription medications may be used to treat these skin masses, although they tend to sporadically recur. A type of eye inflammation known as uveitis is a relatively common symptom of Blau syndrome and may cause pain and blurred vision.

Arthritis is a common occurrence in those with Blau syndrome. The joint inflammation may become so severe that deformities develop, particularly involving the hands. A condition known as camptodactyly is present in many people afflicted with this condition. This symptom involves a joint deformity of one or more fingers and is known to primarily affect the little finger. In some cases, the joints of the toes may have some degree of deformity as well. The degree of deformity varies greatly and may be mild or so severe that permanent disability occurs.

Many patients with Blau syndrome are diagnosed with an autoimmune disorder known as Crohn's disease. This is a type of inflammatory bowel disease and primarily affects the lower region of the small intestine. Symptoms of Crohn's disease may include lower right abdominal pain, diarrhea, and weight loss. Rectal bleeding may sometimes occur and, if left untreated, may become so severe that anemia develops due to the massive loss of blood. Treatment depends on the severity of the symptoms and may include the use of over-the-counter or prescription medications, although surgical intervention may become necessary in some instances.