Cobb Syndrome

Back

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.



View Image

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.

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.



View Image

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



View Image

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]

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.



View Image

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

 

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:

Author

Kendall M Egan, MD, FAAD, Dermatologist, Veteran's Affairs Medical Center; Dermatologist, Spruce Health, Dermatologist, DermOne

Disclosure: Nothing to disclose.

Coauthor(s)

Charles Egan, DO, Lieutenant Commander, US Navy; Staff Neuroradiologist, MRI Director, Naval Hospital Camp Lejeune

Disclosure: Nothing to disclose.

Specialty Editors

David F Butler, MD, Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD, Herman Beerman Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Disclosure: Received royalty from Lippincott Williams Wilkins for textbook editor.

Chief Editor

Dirk M Elston, MD, Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Disclosure: Nothing to disclose.

Additional Contributors

Abby S Van Voorhees, MD, Assistant Professor, Director of Psoriasis Services and Phototherapy Units, Department of Dermatology, University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania

Disclosure: Received honoraria from Amgen for consulting; Received honoraria from Abbott for consulting; Partner received salary from Merck for management position; Received honoraria from Abbott for speaking and teaching; Received honoraria from Amgen for review panel membership; Received honoraria from Centocor for consulting; Received honoraria from Leo for consulting; Received none from Merck for other.

Stephen J Krivda, MD, Assistant Professor of Dermatology, Uniformed Services University of the Health Sciences; Chief of the Integrated Department of Dermatology, Chief of Dermatology Service, Director of Dermatopathology, Staff Dermatopathologist, Walter Reed Army Medical Center; Head, Department of Dermatology, Staff Dermatologist and Dermatopathologist, National Naval Medical Center

Disclosure: Nothing to disclose.

Acknowledgements

The views expressed in this presentation are the authors' and do not necessarily reflect the official policy or position of the Department of the Navy, Department of Defense, or the US Government.

References

  1. Cobb S. Haemangioma of the spinal cord associated with skin naevi of the same metamere. Annals Surgery. 1915. 62:641-9.
  2. Abtahi-Naeini B, Saffaei A, Pourazizi M. Unusual cause of lower extremity wounds: Cobb syndrome. Int Wound J. 2015 Oct 1. [View Abstract]
  3. Pal P, Ray S, Chakraborty S, Dey S, Talukdar A. Cobb syndrome: A rare cause of paraplegia. Ann Neurosci. 2015 Jul. 22 (3):191-3. [View Abstract]
  4. Krings T, Geibprasert S, Luo CB, Bhattacharya JJ, Alvarez H, Lasjaunias P. Segmental Neurovascular syndromes in children. Neuroimaging Clin N Am. May 2007. 17:245-58. [View Abstract]
  5. Lee JW, Chung HY. Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, Investigations, Laser, and Surgical Management. Otolaryngol Clin North Am. 2018 Feb. 51 (1):197-211. [View Abstract]
  6. Clinton TS, Cooke LM, Graham BS. Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation. Cutis. 2003 Apr. 71(4):283-7. [View Abstract]
  7. Matsui Y, Mineharu Y, Satow T, Takebe N, Takeuchi E, Saiki M. Coexistence of multiple cavernous angiomas in the spinal cord and skin: a unique case of Cobb syndrome. J Neurosurg Spine. 2014 Feb. 20 (2):142-7. [View Abstract]
  8. Shim JH, Lee DW, Cho BK. A case of Cobb syndrome associated with lymphangioma circumscriptum. Dermatology. 1996. 193(1):45-7. [View Abstract]
  9. Guillet A, Connault J, Perrot P, Perret C, Herbreteau D, Berton M, et al. Early symptoms and long-term clinical outcomes of distal limb's cutaneous arterio-venous malformations: a retrospective multicentre study of 19 adult patients. J Eur Acad Dermatol Venereol. 2016 Jan. 30 (1):36-40. [View Abstract]
  10. Wirth FP, Post KD, Di Chiro G. Foix-Alajouanine disease. Spontaneous thrombosis of a spinal cord arteriovenous malformation: a case report. Neurology. 1970. 20:1114-18.
  11. Salomão R, Canêdo NHS, Abrão GP, Lima C, Acioly MA. Foix-Alajouanine syndrome mimicking a spinal cord tumor. Rev Assoc Med Bras (1992). 2017 Jul. 63 (7):564-565. [View Abstract]
  12. Jagla M, Szymonska I, Kruczek P. Sonographic findings in a neonate with Cobb syndrome. J Clin Ultrasound. 2013 May. 41(4):258-60. [View Abstract]
  13. Saraf-Lavi E et al. Detection of spinal dural arteriovenous fistulae with MR imaging and contrast-enhanced MR angiography: sensitivity, specificity, and prediction of vertebral level. ASNR AM J Neuroradiol. 2002. 23 (5):858-67.
  14. Dilmé-Carreras E, Iglesias-Sancho M, Márquez-Balbás G, Sola-Ortigosa J, Umbert-Millet P. Cobb syndrome: case report and review of the literature. Dermatology. 2010. 221 (2):110-2. [View Abstract]
  15. Spiotta AM, Hussain MS, Masaryk TJ, Krishnaney AA. Combined endovascular and surgical resection of a giant lumbosacral arteriovenous malformation in a patient with Cobb syndrome. J Neurointerv Surg. 2011 Sep. 3 (3):293-6. [View Abstract]
  16. Schirmer CM, Hwang SW, Riesenburger RI, Choi IS, David CA. Obliteration of a metameric spinal arteriovenous malformation (Cobb syndrome) using combined endovascular embolization and surgical excision. J Neurosurg Pediatr. 2012 Jul. 10(1):44-9. [View Abstract]
  17. Soeda A, Sakai N, Iihara K, Nagata I. Cobb syndrome in an infant: treatment with endovascular embolization and corticosteroid therapy: case report. Neurosurgery. 2003 Mar. 52(3):711-5; discussion 714-5. [View Abstract]

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

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

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

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

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

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

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

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