The vascular anomalies are present at birth. The cutaneous vascular malformation is typically a segmental capillary malformation (CM). Occasionally, there is thickening of the surface of the CM, which can mimic angiokeratomas. Angiolipomas and microcystic lymphatic malformations occurring near the CM have been described.
Neurological symptoms most commonly occur in late childhood to early adulthood but may present at any age. These symptoms are thought to be secondary to cord compression (and consequent ischemia) from the spinal vascular lesions, vascular steal syndrome, or venous hypertension. Symptoms range from weakness to monoparesis to full quadriplegia and can develop over the course of weeks to a year. Bowel and bladder incontinence is a common manifestation. Less frequently, headache, meningismus, and gluteal and limb hypertrophy have been reported.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
254774003 – Cobb's syndrome
Differential Diagnosis & Pitfalls