Cobb syndrome: Difference between revisions

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{{Infobox medical condition (new)
 
| synonyms        = Spinal arteriovenous metameric syndrome
{{Infobox medical condition
| name            = Cobb syndrome
| name            = Cobb syndrome
| image          =
| synonyms        = Cutaneomeningospinal angiomatosis
| caption        =
| field          = [[Neurology]], [[Dermatology]]
| pronounce      =  
| symptoms        = [[Back pain]], [[neurological deficits]], [[skin lesions]]
| field          =  
| complications  = [[Paralysis]], [[bladder dysfunction]], [[bowel dysfunction]]
| symptoms        =  
| onset          = [[Childhood]] or [[adolescence]]
| complications  =  
| duration        = [[Chronic]]
| onset          =  
| causes          = [[Congenital]]
| duration        =  
| risks          = [[Spinal cord]] [[vascular malformations]]
| types          =
| diagnosis      = [[Magnetic resonance imaging|MRI]], [[CT scan]], [[angiography]]
| causes          =  
| differential    = [[Sturge-Weber syndrome]], [[Klippel-Trenaunay syndrome]]
| risks          =  
| treatment      = [[Surgery]], [[embolization]], [[radiotherapy]]
| diagnosis      =  
| prognosis      = Variable, depends on extent of [[neurological involvement]]
| differential    =  
| frequency      = Rare
| prevention      =
| treatment      =  
| medication      =
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
'''Cobb syndrome''' is a rare [[congenital]] disorder characterized by visible skin lesions with underlying spinal [[angioma]]s or [[arteriovenous malformation]]s (AVMs).<ref name="Bolognia">{{cite book | last1 = Rapini | first1 = Ronald P. | last2 = Bolognia | first2 = Jean L. | last3 = Jorizzo | first3 = Joseph L. | name-list-format = vanc |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 }}</ref> The skin lesions of Cobb syndrome typically are present as [[port wine stain]]s or angiomas, but reports exist of [[angiokeratoma]]s,<ref>{{cite journal | vauthors = Clinton TS, Cooke LM, Graham BS | title = Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation | journal = Cutis | volume = 71 | issue = 4 | pages = 283–7 | date = April 2003 | pmid = 12729091 }}</ref> [[angiolipoma]]s, and [[lymphangioma circumscriptum]].<ref>{{cite journal | vauthors = Shim JH, Lee DW, Cho BK | title = A case of Cobb syndrome associated with lymphangioma circumscriptum | journal = Dermatology | volume = 193 | issue = 1 | pages = 45–7 | date = 1996 | pmid = 8864618 | doi = 10.1159/000246199 }}</ref> The intraspinal lesions may be angiomas or AVMs and occur at levels of the [[spinal cord]] corresponding to the affected skin [[dermatome (anatomy)|dermatome]]s. They may in turn produce spinal cord dysfunction and weakness or paralysis.
{{Short description|A rare congenital disorder involving vascular malformations}}
 
{{Medical resources}}
The disorder was first described by Berenbruch in 1890, but became widely known only after Cobb's report in 1915.<ref>{{cite journal | vauthors = Cobb S | title = HAEMANGIOMA OF THE SPINAL CORD: ASSOCIATED WITH SKIN NAEVI OF THE SAME METAMERE | journal = Annals of Surgery | volume = 62 | issue = 6 | pages = 641–9 | date = December 1915 | pmid = 17863459 | pmc = 1406820 | doi=10.1097/00000658-191512000-00001}}</ref> Cobb syndrome is thought to have no sex predilection, but there have been less than 100 cases reported in the literature.<ref name=":0">{{Cite web|url=https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome|title=Cobb syndrome | work = Genetic and Rare Diseases Information Center (GARD) – an NCATS Program  |access-date=2018-04-17}}</ref> It is believed to be due to a sporadic mutation, since parents of affected children usually have no evidence of the disease.
'''Cobb syndrome''', also known as '''cutaneomeningospinal angiomatosis''', is a rare congenital disorder characterized by the presence of vascular malformations affecting the skin, spinal cord, and vertebrae. This condition is named after Dr. Stanley Cobb, who first described it in 1915.
 
==Presentation==
==Signs and symptoms==
Cobb syndrome typically presents with a combination of cutaneous and spinal manifestations. The hallmark of the condition is the presence of a [[cutaneous hemangioma]] or [[vascular malformation]] on the skin, usually located on the back. This skin lesion is often associated with underlying spinal cord and vertebral involvement.
The disease is present at birth, but clinical manifestations are often not seen until later in life. Patients typically experience the sudden onset of pain, numbness, or weakness in their extremities as children or young adults. These symptoms may remit or remain stable and often can be localized below a specific dermatome. Symptoms tend to worsen over time either by discrete steps or continuously. Early development of weakness may portend a more aggressive course. Less commonly, weakness or bowel and bladder dysfunction may be presenting symptoms.
===Cutaneous Manifestations===
 
The skin lesions in Cobb syndrome are usually present at birth or appear in early childhood. They are typically red or purple in color and may vary in size. These lesions are often located in the midline of the back, corresponding to the level of the spinal cord involvement.
The major debility from Cobb syndrome is the onset of weakness, paresis, sensory loss, and loss of bowel and bladder control. A possible complication if treatment is delayed is [[Foix–Alajouanine syndrome|Foix-Alajouanine]] syndrome<ref>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.</ref> or subacute necrotic myelopathy due to thrombosis in the spinal angioma.
===Neurological Manifestations===
 
The neurological symptoms of Cobb syndrome arise from the involvement of the spinal cord. Patients may experience [[neurological deficits]] such as weakness, sensory loss, or [[paralysis]] in the areas of the body below the level of the spinal lesion. The severity of these symptoms can vary depending on the extent of the spinal cord involvement.
Cutaneous lesions may be distributed anywhere in the dermatome, from midline back to abdomen. Midline back lesions may be associated with [[spina bifida]]. The cutaneous lesion may be very faint and may be more pronounced when the patient performs a [[Valsalva maneuver]] which increases abdominal pressure and causes preferential filling of the cutaneous angioma. Neurological examination will reveal weakness or paralysis and numbness or decreased sensation with a sharp upper cutoff.
==Pathophysiology==
Cobb syndrome is caused by the presence of abnormal blood vessels, known as [[arteriovenous malformations]] (AVMs), that affect the skin, spinal cord, and vertebrae. These AVMs can lead to increased blood flow and pressure in the affected areas, resulting in damage to the spinal cord and surrounding structures.
==Diagnosis==
==Diagnosis==
Cobb Syndrome is diagnosed by [[Magnetic resonance imaging|MRI]], supplemented by medullary [[angiography]].<ref name=":0" />
The diagnosis of Cobb syndrome is based on the clinical presentation and imaging studies. [[Magnetic resonance imaging]] (MRI) of the spine is the preferred method for visualizing the spinal cord and identifying any vascular malformations. [[Angiography]] may also be used to assess the blood vessels and confirm the presence of AVMs.
 
==Treatment==
==Management==
The management of Cobb syndrome involves addressing both the cutaneous and neurological components of the disorder. Treatment options may include:
* Treatment of the osteomuscular malformations involves [[embolisation]] (endovascular navigation and occlusion of the arteries feeding the malformation using a biological glue) and/or surgery.  
* '''Surgical intervention''': In some cases, surgery may be necessary to remove or reduce the size of the vascular malformations, particularly if they are causing significant neurological symptoms.
* [[Laser]] treatment is used for associated superficial cutaneous lesions.
* '''Endovascular therapy''': This minimally invasive procedure involves the use of catheters to deliver agents that can block or reduce blood flow to the AVMs.
* Radicular or medullary malformations are treated by embolisation.  
* '''Symptomatic management''': Physical therapy and rehabilitation may be required to manage neurological deficits and improve the patient's quality of life.
* Indications for classic surgery are restricted to certain localisations and superficial [[Lesion|lesions]], epidural and paraspinal injections can be used if the endovascular approach fails.  
==Prognosis==
* [[Radiotherapy]] is not indicated.  
The prognosis for individuals with Cobb syndrome varies depending on the severity of the spinal cord involvement and the success of treatment interventions. Early diagnosis and appropriate management are crucial for improving outcomes and minimizing neurological complications.
* Early diagnosis reduces the extent of the neurological deterioration, in particular [[paralysis]].
==Related pages==
 
* [[Vascular malformation]]
== See also ==
* [[Arteriovenous malformation]]
* [[Klippel–Trénaunay–Weber syndrome]]
* [[Hemangioma]]
* [[List of cutaneous conditions]]
* [[Spinal cord]]
 
[[Category:Congenital disorders]]
== References ==
[[Category:Vascular diseases]]
{{reflist}}
[[Category:Neurological disorders]]
== External links ==
{{Medical resources
|  DiseasesDB    = 32587
|  ICD10          = Q27.3
|  ICD9          = 
|  ICDO          = 
|  OMIM          = 
|  MedlinePlus    = 
|  eMedicineSubj  = article
|  eMedicineTopic = 1086037
|  MeshID        = 
|  Orphanet      = 53721
}}
[[Category:Vascular-related cutaneous conditions]]
[[Category:Syndromes]]
{{No image}}
__NOINDEX__

Latest revision as of 22:52, 3 April 2025


Cobb syndrome
Synonyms Cutaneomeningospinal angiomatosis
Pronounce N/A
Specialty N/A
Symptoms Back pain, neurological deficits, skin lesions
Complications Paralysis, bladder dysfunction, bowel dysfunction
Onset Childhood or adolescence
Duration Chronic
Types N/A
Causes Congenital
Risks Spinal cord vascular malformations
Diagnosis MRI, CT scan, angiography
Differential diagnosis Sturge-Weber syndrome, Klippel-Trenaunay syndrome
Prevention N/A
Treatment Surgery, embolization, radiotherapy
Medication N/A
Prognosis Variable, depends on extent of neurological involvement
Frequency Rare
Deaths N/A


A rare congenital disorder involving vascular malformations


Cobb syndrome, also known as cutaneomeningospinal angiomatosis, is a rare congenital disorder characterized by the presence of vascular malformations affecting the skin, spinal cord, and vertebrae. This condition is named after Dr. Stanley Cobb, who first described it in 1915.

Presentation[edit]

Cobb syndrome typically presents with a combination of cutaneous and spinal manifestations. The hallmark of the condition is the presence of a cutaneous hemangioma or vascular malformation on the skin, usually located on the back. This skin lesion is often associated with underlying spinal cord and vertebral involvement.

Cutaneous Manifestations[edit]

The skin lesions in Cobb syndrome are usually present at birth or appear in early childhood. They are typically red or purple in color and may vary in size. These lesions are often located in the midline of the back, corresponding to the level of the spinal cord involvement.

Neurological Manifestations[edit]

The neurological symptoms of Cobb syndrome arise from the involvement of the spinal cord. Patients may experience neurological deficits such as weakness, sensory loss, or paralysis in the areas of the body below the level of the spinal lesion. The severity of these symptoms can vary depending on the extent of the spinal cord involvement.

Pathophysiology[edit]

Cobb syndrome is caused by the presence of abnormal blood vessels, known as arteriovenous malformations (AVMs), that affect the skin, spinal cord, and vertebrae. These AVMs can lead to increased blood flow and pressure in the affected areas, resulting in damage to the spinal cord and surrounding structures.

Diagnosis[edit]

The diagnosis of Cobb syndrome is based on the clinical presentation and imaging studies. Magnetic resonance imaging (MRI) of the spine is the preferred method for visualizing the spinal cord and identifying any vascular malformations. Angiography may also be used to assess the blood vessels and confirm the presence of AVMs.

Treatment[edit]

The management of Cobb syndrome involves addressing both the cutaneous and neurological components of the disorder. Treatment options may include:

  • Surgical intervention: In some cases, surgery may be necessary to remove or reduce the size of the vascular malformations, particularly if they are causing significant neurological symptoms.
  • Endovascular therapy: This minimally invasive procedure involves the use of catheters to deliver agents that can block or reduce blood flow to the AVMs.
  • Symptomatic management: Physical therapy and rehabilitation may be required to manage neurological deficits and improve the patient's quality of life.

Prognosis[edit]

The prognosis for individuals with Cobb syndrome varies depending on the severity of the spinal cord involvement and the success of treatment interventions. Early diagnosis and appropriate management are crucial for improving outcomes and minimizing neurological complications.

Related pages[edit]