Cobb Syndrome (Cutaneomenigospinal Angiomatosis)
What is Cobb Syndrome (Cutaneomenigospinal Angiomatosis)?
Cobb Syndrome, also known as Cutaneomeningospinal Angiomatosis, is a rare congenital disorder characterized by the presence of skin lesions and spinal cord deformities. The skin lesions may appear as red or purple marks, sometimes referred to as “port wine stains.” Spinal cord lesions may appear as arteriovenous malformations (AVMs), abnormal connections between arteries and veins. Hemangiomas, benign blood vessel growths, may be present in both the skin and spinal cord. The parts of the skin and spinal cord affected are usually in the same dermatome, or area sharing common nerve connections. The spinal cord lesions can lead to neurological deficits, weakness and paralysis.
Synonyms
- Cutaneomeningospinal angiomatosis
- Spinal arteriovenous metameric syndrome
- Cutaneous spinal angiomatosis
Cobb Syndrome, also known as Cutaneomeningospinal Angiomatosis, is a rare congenital disorder characterized by the presence of skin lesions and spinal cord deformities. The skin lesions may appear as red or purple marks, sometimes referred to as “port wine stains.” Spinal cord lesions may appear as arteriovenous malformations (AVMs), abnormal connections between arteries and veins. Hemangiomas, benign blood vessel growths, may be present in both the skin and spinal cord. The parts of the skin and spinal cord affected are usually in the same dermatome, or area sharing common nerve connections. The spinal cord lesions can lead to neurological deficits, weakness and paralysis.
Cobb Syndrome is extremely rare, with only about 100 cases reported in the medical literature. Its exact prevalence is not well-documented due to its rarity, but it is estimated that less than 1 in every million people will develop Cobb Syndrome
| Name | Abbreviation |
|---|---|
| Cutaneomeningospinal angiomatosis | |
| Spinal arteriovenous metameric syndrome | SAMS 1-31 |
| Cutaneous spinal angiomatosis |
The exact cause of Cobb Syndrome is not known. It is believed to be due to a sporadic mutation as parents of affected children have no evidence of the disease, therefore it is not linked to genetic inheritance. The occurrence of skin and spinal cord abnormalities in the same dermatome suggest a developmental disorder affecting the vascular system.
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Cutaneous Symptoms:
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Red or purple “port-wine stain” birthmarks (hemangiomas) on the skin, typically present at birth or appearing early in life.
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These lesions are usually located along the back, corresponding to the affected spinal segments.
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Neurological Symptoms:
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Progressive myelopathy (spinal cord dysfunction).
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Pain in the back and legs.
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Muscle weakness.
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Sensory disturbances.
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Bowel and bladder dysfunction.
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In severe cases, paralysis.
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Clinical Examination:
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Observation of characteristic cutaneous hemangiomas.
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Neurological assessment to identify spinal cord involvement.
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Imaging:
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Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) of the spine to visualize spinal AVMs or hemangiomas.
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Spinal angiography to assess the vascular malformations in detail.
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Surgical Intervention:
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Removal of spinal AVMs or hemangiomas to relieve spinal cord compression and prevent further neurological deterioration.
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Endovascular Therapy:
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Embolization (closure of blood vessels) of the AVMs to reduce blood flow and alleviate symptoms.
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Symptomatic Management:
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Physical therapy to maintain mobility and function.
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Pain management through medications.
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Laser Treatment:
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Removal of superficial cutaneous lesions.
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Steroid Therapy:
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Used empirically in some cases to reduce inflammation and symptoms.
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The prognosis for patients with Cobb Syndrome varies depending upon the severity and location of the spinal AVMs and the degree of neurological impairment at the time of diagnosis. Early diagnosis and appropriate treatment are crucial for better outcomes. Patients with mild symptoms may have a relatively good prognosis, while those with significant spinal cord involvement may experience more severe and lasting neurological deficits.
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Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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