Cobb Syndrome 

Updated: Jun 19, 2018
Author: Kendall M Egan, MD, FAAD; Chief Editor: Dirk M Elston, MD 

Overview

Background

Cobb syndrome, or cutaneomeningospinal angiomatosis, is a rare noninherited disorder first described by Berenbruch in 1890 and described later by Cobb in 1915.[1] Patients with Cobb syndrome present with congenital cutaneous vascular lesions distributed in a dermatomal pattern with associated spinal angiomas or arteriovenous malformations (AVMs). The spinal vascular lesions can cause neurologic deficits, including paralysis.[2, 3] Early recognition of the association between the vascular skin lesions and associated spinal lesions may prevent or minimize neurological sequela. It is critical that the clinician recognize the importance of these cutaneous lesions.

Refer to the image below.

Cutaneous vascular lesions. Courtesy of L. Cooke, Cutaneous vascular lesions. Courtesy of L. Cooke, MD.

 

Etiology

It has been suggested that Cobb syndrome, Sturge-Weber syndrome, and PHACE syndrome (posterior fossa, hemangioma or other vascular birthmark present either on the outside or inside, arterial defect in the head and or neck area, cardiac problems, eye problems) may have a similar somatic mutation in the neural crest or mesoderm during development. The timing of this mutation during development may determine which syndrome develops.[4]

Epidemiology

Frequency

Cobb syndrome is rare; fewer than 100 cases have been reported.

Race

Cobb syndrome is reported more commonly in whites.

Sex

Cobb syndrome has a slight male predominance.

Age

Cutaneous lesions are congenital. These lesions may be subtle, and recognition of the cutaneous lesions may be delayed. The onset of neurological symptoms usually occurs in childhood or adolescence.

Prognosis

Patients who develop neurological symptoms may experience intermittent episodes of deficits that resolve, a gradual progressive deficit, or a sudden onset of paralysis. Although the most common timing for the onset of neurological symptoms is in childhood or adolescence, one case report described a 5-month-old infant with a cutaneous vascular malformation and paraparesis.

Prognosis likely depends on the severity of the spinal pathology and the timeliness of diagnosis and intervention. Patients who present with rapidly progressing neurological deficits may have a worse prognosis. 

Early diagnosis is critical. Recognizing the significance of the cutaneous lesions is of upmost importance. Cobb Syndrome should be considered in any patient with cutaneous vascular lesions in a dermatomal pattern. The presence of these vascular lesions in a dermatomal pattern should prompt further evaluation for associated spinal pathology. Diagnosing these patients early may assist in preventing or minimizing potential neurological injury. Owing to the rarity of this syndrome and the varied clinical presentations, multidisciplinary teams may best serve the patient. The clinician should consider consultation with dermatologists, neurologists, neurosurgeons, and interventional radiologists.

 

Presentation

History

The cutaneous manifestations of Cobb syndrome typically present as port-wine stains (PWSs) in a dermatomal distribution on the trunk.[5] Other cutaneous vascular malformations, including angiomas, angiokeratomas,[6] angiolipomas, cavernous hemangiomas,[7] and lymphangioma circumscriptum, have also been less frequently reported.[8] The intraspinal lesions are most commonly arteriovenous malformations (AVMs).[9]

Kyphoscoliosis may occur if the spinal lesion involves the vertebral bodies.

Physical Examination

Vascular cutaneous lesions are in a dermatomal distribution. See the images below.

Cutaneous vascular lesions. Courtesy of L. Cooke, Cutaneous vascular lesions. Courtesy of L. Cooke, MD.
Cutaneous vascular lesions. Courtesy of L. Cooke, Cutaneous vascular lesions. Courtesy of L. Cooke, MD.

Midline back lesions may be associated with spina bifida.

The cutaneous vascular lesions may be subtle. These lesions may become more pronounced and more easily identifiable when the patient performs the Valsalva maneuver.

A thorough neurologic examination may show deficits, depending on the severity of the spinal pathology.

Complications

Patients may develop neurological deficits, including paralysis resulting from mass effect or hemorrhage of a vascular spinal lesion.

If thrombosis occurs within an arteriovenous malformation (AVM), subacute necrotic myelopathy or Foix-Alajouanine disease may develop.[10, 11]

 

DDx

 

Workup

Imaging Studies

MRI is likely the most effective study, although CT scanning, plain radiography, and angiography can provide useful information. In addition, ultrasound may be useful in newborns and young infants.[12] MR angiography (MRA) has also been shown to improve sensitivity in detecting spinal vascular malformations.[13]

Associated vascular lesions can be located within the spinal cord itself (intramedullary), outside the cord but within the spinal canal (extramedullary), or extraspinal, including the paravertebral soft tissues. Overall, spinal arteriovenous malformations (AVMs) are classified into four subtypes. Cobb Syndrome is associated with type 3 AVMs.

In the imaging example provided below, the vascular malformation is seen within the intramedullary and extramedullary portions of the spinal canal. Multiple punctate foci of low signal within the lesion represent flow voids, which are characteristic. The intrinsic T2 hyperintensity within the lesion is characteristic as well. Low signal along the superior and inferior aspects of the lesion are not specific, but may represent old blood products.

MRI of spinal vascular lesion. Courtesy of L. Cook MRI of spinal vascular lesion. Courtesy of L. Cooke, MD.

 

 

Treatment

Approach Considerations

Early imaging and appropriate intervention may prevent permanent neurological deficits.[14] Patients should be referred to a neurosurgeon and an interventional radiologist for evaluation and treatment. Patients may undergo a combination of procedures to optimize outcomes. Endovascular embolization and surgical excision have been used successfully.[15, 16] Oral corticosteroids have been used in conjunction with interventional procedures.[17]

Consultations

Consultations may include the following:

  • Neurosurgeon
  • Interventional radiologist
  • Neurologist
  • Dermatologist