Cobb syndrome Q27.3

Neurocutaneous angiodysplasia syndrome: Combination of a vascular malformation of the spinal cord vessels with a nevus flammeus lateralis of the dermatome corresponding to the affected spinal cord segment. No familial occurrence.

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)

Ighani M et al (2018): A 62-year-old woman was diagnosed with a bleeding and enlarging soft tissue mass on the right anterior abdominal wall. The cutaneous and subcutaneous vascular malformations were known since early childhood.

Medical history included a laminectomy of L4-L5 performed in 1989 without fusion for lower extremity weakness without radicular symptoms and an epidural fistula of T9 embolized with a coil in 2011 to prevent abnormal vascular flow.

Examination of the bilateral lower extremities revealed a marked stepper gait with bilateral external rotation deformities and bilateral foot drop. Physical examination revealed a nevus flammeus both on the right chest wall (9×6 cm) and another on the right abdominal wall (18×12 cm). Both capillary malformations were surrounded by large succulent subcutaneous vascular clusters.

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. Ighani M et al (2018) Cobb syndrome (cutaneomeningospinal angiomatosis). BMJ Case Rep 2018:bcr2018225208.
4. Jessen TR, Thompson S, Smith EB (1977) Cobb syndrome. Arch Dermatol 113: 1587-1590
5. Soeda A et al. (2003) Cobb syndrome in an infant: treatment with endovascular embolization and corticosteroid therapy: case report. Neurosurgery 52: 711-715