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What
The Kohlmeier-Degos syndrome is a rare disorder of small and medium-sized blood vessels throughout the body. These blood vessels become narrowed, causing blockage in multiple organs. Kohlemeir-Degos has been known to affect mainly the intestines, nervous system, and skin. There are two main forms of this disease. The mild version involves only the skin, while the more severe form affects multiple organs. In both cases, patients are first identified because of the skin findings.
Who
Kohlmeier-Degos syndrome affects both sexes and can occur in all ethnic groups. There is a wide age range of affected individuals, but onset of symptoms occurs mainly in young adulthood. This syndrome is very rare with approximately 200 cases reported worldwide. Rarely, a mild version of Kohlmeier-Degos syndrome can be passed on through families.
Signs and Symptoms
Most patients first come to the attention of the doctor because of a skin rash. The rash appears as red bumps on the trunk, legs, and arms that then become umbilicated (the bumps look like they have an indention in the center). The rash then progresses to porcelain white scars. The rash can progress over a few days. Rarely, the rash can be itchy and painful. Kohlmeier-Degos can also affect the intestines and nervous system. Commonly, these blockages begin presenting weeks to months after the skin rash. Symptoms of intestinal problems include abdominal pain, nausea, vomiting, and swelling of the stomach because of blockage of blood flow to the stomach and intestines. In late stages of the disease, the intestine can perforate (will develop a hole). If the nervous system is involved, the child may have dizziness, headaches, blurry vision, and rarely seizures.
Possible Causes
The cause of this syndrome is still unknown. Suspected causes include a viral infection, clotting defects, immune system dysfunction or gene mutations.
Diagnosis
Although there is no specific blood test to diagnose this syndrome, a dermatologist can take a biopsy of the skin rash for the diagnosis. Most affected individuals have normal blood tests with the exception of anemia (low blood cell count). If the nervous system is involved, 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 (a long tube with a camera is placed down the throat to visualize the stomach and intestine) 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). For patients with mainly skin symptoms, use of nicotine patches, pentoxifylline, and aspirin have shown to have consistent success. Many medications including immunosuppressants, anti-platelet drugs, and blood thinners have been tried with little success. Physical therapy plays a role when there is significant weakness in patients whose nervous systems are affected. Surgery is needed if bowel perforation occurs.
Prognosis
Prognosis of Kohlmeier-Degos depends upon the severity of the disease. Those patients with only skin lesions generally do very well. However, when there are more systemic problems, complications from intestinal or nervous system lesions can ultimately lead to death in months to years.
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
malignant Atrophic Papulosis
http://www.emedicine.com/med/TOPIC2943.HTM
Torrelo A, Sevilla J, Mediero I, et. Al (2002). malignant atrophic papulosis in an infant. Br J Derm. May; 146(5): 916-8.