Cobb syndrome is a rare congenital disorder characterized by visible skin lesions with underlying spinal angioma

Angioma

Angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls or derived from cells of the tissues surrounding these vessels....

s or arteriovenous malformation

Arteriovenous malformation

Arteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital. This pathology is widely known because of its occurrence in the central nervous system, but can appear in any location. An arteriovenous malformation is a vascular anomaly. It is a...

s (AVMs). The skin lesions of Cobb syndrome typically are present as port wine stains or angiomas, but reports exist of angiokeratoma

Angiokeratoma

Angiokeratoma a is benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis....

s, angiolipoma

Angiolipoma

Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful....

s, and lymphangioma circumscriptum. The intraspinal lesions may be angiomas or AVMs and occur at levels of the spinal cord

Spinal cord

The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the brain . The brain and spinal cord together make up the central nervous system...

 corresponding to the affected skin dermatome

Dermatome

Dermatome may refer to:*Dermatome , a surgical instrument used to produce thin slices of skin*Dermatome , an area of skin that is supplied by a single pair of dorsal roots*Dermatome...

s. They may in turn produce spinal cord dysfunction and weakness or paralysis.

The disorder was first described by Berenbruch in 1890, but became widely known only after Cobb's report in 1915. Cobb syndrome is thought to be more common in males and have no racial prediliction, but only a few dozen cases are known. It is believed to be due to a sporadic mutation, since parents of affected children usually have no evidence of the disease.

Signs & Symptoms

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.

The major debility from Cobb syndrome is the onset of weakness, paresis, sensory loss, and loss of bowel and bladder control. A possible complication if treatment is delayed is Foix-Alajouanine disease or subacute necrotic myelopathy due to thrombosis in the spinal angioma.

Cutaneous lesions may be distributed anywhere in the dermatome, from midline back to abdomen. Midline back lesions may be associated with spina bifida

Spina bifida

Spina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through...

. The cutaneous lesion may be very faint and may be more pronounced when the patient performs a Valsalva maneuver

Valsalva maneuver

The Valsalva maneuver or Valsalva manoeuvre is performed by moderately forceful attempted exhalation against a closed airway, usually done by closing one's mouth and pinching one's nose shut...

which increases abdominal pressure and causes preferential filling of the cutaneous angioma. Neurological examination will reveal weakness or paralysis and numbness or decreased sensation with a sharp upper cutoff.