Cobb Syndrome
Cobb syndrome is a rare, non-inherited disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVM). The skin lesions typically are present as Port-Wine Stains (light pink to dark purple birthmarks), but reports exist of angiokeratomas, angiolipomas, and lymphangioma circumscriptum.
Causes of Cobb Syndrome
The cause of Cobb syndrome is not completely understood. It is believed that somatic mutations in the neural crest or mesoderm are responsible for its development fairly early in the development of the embryo
Who gets Cobb syndrome?
Cobb syndrome is extremely rare.
There are fewer than 100 reported cases in literature, although researchers believe that the disease may be underreported.
Reported cases show Cobb syndrome to be slightly more common in males and Caucasians.
The cutaneous symptoms of Cobb syndrome appear at birth, and neurological symptoms present by the age of 5 years.
Affected children do not have a family history of Cobb syndrome.
Symptoms of Cobb Syndrome
The disease is present at birth, but clinical manifestations are often not seen until later in life.
Patients typically experience the sudden onset of pain, numbness, or weakness in their extremities as children or young adults.
These symptoms may remit or remain stable and often can be localized below a specific dermatome.
Symptoms tend to worsen over time either by discrete steps or continuously.
Early development of weakness may portend a more aggressive course.
Less commonly, weakness or bowel and bladder dysfunction may be presenting symptoms.
Capillary vascular malformations (port wine stains) in a dermatomal distribution on the trunk Arteriovenous malformations
Other vascular lesions, including angioma, angiokeratoma, angiolipoma, cavernous haemangioma, and lymphatic malformation.
Diagnosis of Cobb Syndrome
Patients displaying signs and symptoms of this disorder may undergo several imaging studies such as MRI, Radiography, Angiography, and CT scans, as well as a thorough work-up by specialists in the fields of Neurology, Neurosurgery, and Interventional Radiology to ensure the best prognosis.
Treatment of Cobb Syndrome
Treatment for Cobb syndrome may include:
Sclerotherapy, endovascular embolisation and surgical excision of vascular lesions
Oral steroids
Physical therapy
Compression garments for capillary, venous or lymphatic abnormalities.
Complications of Cobb syndrome
Possible complications of Cobb syndrome include:
Combined kyphosis and scoliosis, bone and joint pain due to spinal involvement
Thrombosis within arteriovenous malformations
Necrotic myelopathy and Foix–Alajouanine syndrome
More rarely, congestive heart failure, and gangrene.