Cobb syndrome Q27.3

So far, < 150 cases have been described in the literature. Both sexes are equally frequently affected.

The syndrome is not clustered in affected families, and chromosomal abnormalities have not been described. The beginnings of the disease are in early embryogenesis, before migration of vascular precursor cells to their definitive segments (skin, bone, peripheral nerves, spinal cord). When two consecutive segments are affected, a multimetameric form of the disease results.

Since birth existing, 1 or 2 dermatomas following nevus flammeus lateralis. Neurological symptoms beginning in schoolchildhood or adolescence in the form of sudden onset of paralysis or progressive neurological deficits, reminiscent of an intraspinal tumor. Of note is the association of Cobb syndrome and segmental neurofibromatosis (NF1) (Pascual-Castroviejo I et al. 2008).

In a recent analysis of the syndrome, the designation Spinal Arterio-venous Metameres Syndrome 1-31 (SAMS 1-31)

1. Clinton TS et al (2003) Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation. Cutis 71: 283-287
2. Cobb S (1915) Haemangioma of the spinal cord associated with skin naevi of the same metamere. Ann Surg 62: 641-649
3. Jessen TR, Thompson S, Smith EB (1977) Cobb Syndrome. Arch Dermatol 113: 1587-1590
4. Soeda A et al (2003) Cobb syndrome in an infant: treatment with endovascular embolization and corticosteroid therapy: case report. Neurosurgery 52: 711-715