Madisons Foundation - Moms And Dads In Search Of Needed Support

What

The Kohlmeier-Degos syndrome is a rare disorder of small and medium sized blood vessels throughout the body causing them to be blocked. There are two stages of the disease with skin lesions appearing first for several weeks to years followed by lesions in the small intestines.

Who

Kohlmeier-Degos syndrome is very rare with approximately 150 cases reported worldwide. Males are more likely to develop the disorder three times more often than females. There is a wide age range of affected individuals from infancy to early adulthood. There is no known racial preference.

Signs and Symptoms

Children may have every organ system involved and thus may have a multitude of symptoms. The most common include the following:

• Skin rash that appears as red bumps and progress into porcelain white scars.
  
• Abdominal pain and cramps
  
• Diarrhea
  
• Nausea and vomiting
  
• Potential bowel wall perforation
  
• Eye problems including blurred vision, double vision, and eye droopiness.
  
• Chest pain with shortness of breath
  
• Neurologic problems including: seizures, dizziness, and headaches.

Possible Causes

The cause of this rare disorder is still unknown. Suspected causes include a viral infection, clotting defect, or immune system problem.

Diagnosis

There are no specific blood tests that can be used to diagnose Kohlmeier-Degos syndrome. Most affected individuals have normal blood tests with the exception of anemia. Imaging studies in the form of MRI (magnetic resonance imaging) may show small strokes or bleeding into the brain. A cerebral angiogram (injection of dye into blood vessels) will show the narrowing of blood vessels in the brain. Your doctor may also perform an endoscopy procedure to visualize ulcers or lesions in the gastrointestinal tract.

Treatment

The approach to treatment is focused on relieving specific symptoms and coordinating care with multiple medical specialists (dermatologist, neurologist, gastroenterologist, ophthalmologist, and surgeon). Many medications including immunosuppressants, anti-platelet drugs, and blood thinners have been tried with limited success. Physical therapy plays a role when there is significant weakness. Surgery is needed if bowel perforation occurs.

Prognosis

Children with only skin lesions generally do very well. However when gastrointestinal lesions arise, death occurs in about 50% of patients.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The Gaps Index
Information on genetic disorders for parents.

Echildshealth.com
Central hub for other links: search

“Kohlmeier-Degos” Hodgers.com
Personal accounts regarding the disease.

Yahoo Groups
Group website and discussion board for parents.

National organization of rare disorders (NORD)
Disease Information of national organizations that can help.

The Doctor’s doctor
More technical information but useful nonetheless.

Google Search for Kohlmeier-Degos Syndrome

References and Sources

EMedicine article: Hemant Pande www.emedicine.com/med/topic2943.htm