CLOVES syndrome: Difference between revisions

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{{Infobox medical condition (new)
{{SI}}
| name            = {{PAGENAME}}
{{Infobox medical condition
| synonyms        = Congenital Lipomatous Overgrowth-Vascular malformation-Epidermal nevi-spinal anomaly Syndrome, Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
| name            = CLOVES syndrome
| image          = PI3kinase.png
| image          = [[File:PI3kinase.png|left|thumb|PI3K pathway]]
| alt            =
| caption        = The PI3K pathway is involved in CLOVES syndrome.
| caption        = Mutations affecting PI3kinase are involved in the cause of this condition
| synonyms        = Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies and/or scoliosis
| pronounce      =  
| pronounce      =  
| field          =  
| specialty      = [[Medical genetics]]
| symptoms        =  
| symptoms        = [[Overgrowth]], [[vascular malformations]], [[epidermal nevi]], [[scoliosis]]
| complications  =
| onset          = [[Congenital]]
| onset          =  
| duration        = Lifelong
| duration        =  
| causes          = [[Genetic mutation]] in the [[PIK3CA]] gene
| types          =
| causes          =  
| risks          =  
| risks          =  
| diagnosis      =  
| diagnosis      = [[Clinical diagnosis]], [[genetic testing]]
| differential    =  
| differential    = [[Proteus syndrome]], [[Klippel-Trenaunay syndrome]]
| prevention      =  
| prevention      = None
| treatment      =  
| treatment      = [[Symptomatic treatment]], [[surgery]]
| medication      =  
| medication      =  
| prognosis      =  
| prognosis      = Variable, depends on severity
| frequency      =  
| frequency      = Rare
| deaths          =  
| deaths          =  
}}
}}
'''CLOVES syndrome''' is an extremely rare [[overgrowth syndrome]] with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. CLOVES syndrome is closely linked to other overgrowth disorders like [[proteus syndrome]], [[Klippel–Trénaunay syndrome]], [[Sturge–Weber syndrome]], and [[hemihypertrophy]], to name a few.
{{DISPLAYTITLE:CLOVES Syndrome}}
It can also cause fat to move to the back, and many cases undescended testicles.
== Introduction ==
 
'''CLOVES syndrome''' is a rare congenital disorder characterized by a combination of [[vascular anomalies]], [[overgrowth]], and other distinctive features. The acronym CLOVES stands for '''C'''ongenital, '''L'''ipomatous, '''O'''vergrowth, '''V'''ascular malformations, '''E'''pidermal nevi, and '''S'''keletal/spinal anomalies. This condition is caused by mutations in the [[PIK3CA]] gene, which plays a crucial role in cell growth and division.
'CLOVES' is an acronym for:<ref>{{cite web|url=http://www.clovessyndrome.org/|title=CLOVES Syndrome|work=clovessyndrome.org}}</ref><ref>{{cite web|url=http://www.childrenshospital.org/conditions-and-treatments/conditions/cloves-syndrome|title=CLOVES Syndrome - Boston Children's Hospital|author=Boston Childrens Hospital 2013|work=childrenshospital.org}}</ref>
== Etiology ==
* '''C''' is for [[congenital]].
CLOVES syndrome is caused by somatic mutations in the [[PIK3CA]] gene. These mutations lead to the activation of the [[PI3K-AKT-mTOR pathway]], which results in abnormal cell growth and proliferation. The [[PIK3CA]] gene is part of the phosphoinositide 3-kinase (PI3K) family, which is involved in various cellular functions, including metabolism, growth, and survival.
* '''L''' is for [[lipoma]]tous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most CLOVES patients present with a soft fatty mass at birth, often visible on one or both sides of the back, legs and/or abdomen. 
[[File:PI3kinase.png|left|thumb|Diagram of the PI3K pathway, which is implicated in CLOVES syndrome.]]
* '''O''' is for overgrowth, because there is an abnormal increase in the size of the body or a body part that is often noted at birth. Patients with CLOVES may have affected areas of their bodies that grow faster than in other people. Overgrowth of extremities (usually arms or legs) is seen, with large wide hands or feet, large fingers or toes, wide space between fingers, and asymmetry of body parts.
== Clinical Features ==
* '''V''' is for [[vascular malformation]]s, which are blood vessel abnormalies. Patients with CLOVES have different venous, capillary, and lymphatic channels - typically capillary, venous and lymphatic malformations are known as "slow flow" lesions. Some patients with CLOVES have combined lesions (which are fast flow) and some have aggressive vascular malformation known as [[arteriovenous malformation]]s (AVM).  The effect of a vascular malformation varies per patient based on the type, size, and location of the malformation, and symptoms can vary.
Patients with CLOVES syndrome present with a wide range of clinical features, which can vary significantly in severity. Common manifestations include:
* '''E''' is for Epidermal [[naevi]], which are sharply-circumscribed chronic lesions of the skin, and benign. These are often flesh-colored, raised or warty.
* [[Vascular malformations]]: These can include capillary, venous, and lymphatic malformations.
* '''S''' is for Spinal/Skeletal Anomalies or [[scoliosis]]. Some patients with CLOVES have [[tethered spinal cord]], vascular malformations in or around their spines, and other spinal differences. High-flow aggressive spinal lesions (like AVM) can cause serious neurological deficits/paralysis.
* [[Lipomatous overgrowth]]: Abnormal growth of fatty tissue, often asymmetric.
 
* [[Epidermal nevi]]: Skin lesions that are present at birth.
The syndrome was first recognised by Saap and colleagues who recognised the spectrum of symptoms from a set of seven patients.<ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |year=2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref> In this initial description the syndrome is named CLOVE syndrome. It is believed that the first description of a case of CLOVES syndrome was written by [[Hermann Friedberg]], a German physician, in 1867.<ref>{{cite web|url=http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1266/viewAbstract |title=CLOVES Syndrome |work=National Organization for Rare Diseases |accessdate=24 March 2015 |url-status=dead |archiveurl=https://web.archive.org/web/20150402145658/http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1266/viewAbstract |archivedate=April 2, 2015 }}</ref><ref>{{cite journal|last1=Alomari|first1=AI|last2=Thiex|first2=R|last3=Mulliken|first3=JB|title=Hermann Friedberg's case report: an early description of CLOVES syndrome|journal=Clinical Genetics|date=October 2010|volume=78|issue=4|pages=342–347|doi=10.1111/j.1399-0004.2010.01479.x}}</ref>
* [[Skeletal anomalies]]: These may include scoliosis, limb length discrepancies, and other bone abnormalities.
 
* [[Spinal anomalies]]: Such as tethered cord syndrome.
==Causes==
== Diagnosis ==
[[Somatic mutation]]s in the [[P110α|PIK3CA]] have been identified as a cause of CLOVES syndrome.<ref name="pmid22658544">{{cite journal |vauthors=Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML |title=Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome |journal=Am. J. Hum. Genet. |volume=90 |issue=6 |pages=1108–15 |year=2012 |pmid=22658544 |pmc=3370283 |doi=10.1016/j.ajhg.2012.05.006 |url=}}</ref> PIK3CA is a [[protein]] involved in the [[PI3K/AKT/mTOR pathway|PI3K-AKT signalling pathway]]. Mutations in other parts of this pathway cause other overgrowth syndromes including [[Proteus syndrome]] and [[hemimegaencephaly]].<ref name="pmid22658544"/>
The diagnosis of CLOVES syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the [[PIK3CA]] gene. Imaging studies, such as [[MRI]] and [[CT scans]], are often used to assess the extent of vascular malformations and overgrowth.
 
== Management ==
==References==
Management of CLOVES syndrome is multidisciplinary and tailored to the individual patient's needs. It may include:
{{reflist}}
* Surgical intervention to address overgrowth and vascular malformations.
 
* [[Sclerotherapy]] for vascular anomalies.
== External links ==
* Orthopedic management for skeletal deformities.
{{Medical resources
* Regular monitoring and supportive care.
|  ICD10          = Q87.3
== Prognosis ==
|  ICD9            = <!--{{ICD9|xxx}}-->
The prognosis for individuals with CLOVES syndrome varies depending on the severity of the condition and the presence of complications. Early diagnosis and appropriate management can improve outcomes and quality of life.
|  ICDO            =  
== See also ==
|  OMIM            = 612918
* [[Vascular malformation]]
|  DiseasesDB      =  
* [[PIK3CA]]
|  MedlinePlus    =
* [[Overgrowth syndromes]]
|  eMedicineSubj  =  
[[Category:Congenital disorders]]
|  eMedicineTopic  =  
[[Category:Rare diseases]]
|  MeSH            =  
|  GeneReviewsNBK  =  
|  GeneReviewsName =
|  Orphanet        = 140944
}}
 
[[Category:Vascular diseases]]
[[Category:Rare syndromes]]
[[Category:Genetic syndromes]]
{{dictionary-stub1}}

Latest revision as of 21:07, 4 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

CLOVES syndrome
PI3K pathway
Synonyms Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies and/or scoliosis
Pronounce
Specialty Medical genetics
Symptoms Overgrowth, vascular malformations, epidermal nevi, scoliosis
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation in the PIK3CA gene
Risks
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis Proteus syndrome, Klippel-Trenaunay syndrome
Prevention None
Treatment Symptomatic treatment, surgery
Medication
Prognosis Variable, depends on severity
Frequency Rare
Deaths


Introduction[edit]

CLOVES syndrome is a rare congenital disorder characterized by a combination of vascular anomalies, overgrowth, and other distinctive features. The acronym CLOVES stands for Congenital, Lipomatous, Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies. This condition is caused by mutations in the PIK3CA gene, which plays a crucial role in cell growth and division.

Etiology[edit]

CLOVES syndrome is caused by somatic mutations in the PIK3CA gene. These mutations lead to the activation of the PI3K-AKT-mTOR pathway, which results in abnormal cell growth and proliferation. The PIK3CA gene is part of the phosphoinositide 3-kinase (PI3K) family, which is involved in various cellular functions, including metabolism, growth, and survival.

Diagram of the PI3K pathway, which is implicated in CLOVES syndrome.

Clinical Features[edit]

Patients with CLOVES syndrome present with a wide range of clinical features, which can vary significantly in severity. Common manifestations include:

Diagnosis[edit]

The diagnosis of CLOVES syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the PIK3CA gene. Imaging studies, such as MRI and CT scans, are often used to assess the extent of vascular malformations and overgrowth.

Management[edit]

Management of CLOVES syndrome is multidisciplinary and tailored to the individual patient's needs. It may include:

  • Surgical intervention to address overgrowth and vascular malformations.
  • Sclerotherapy for vascular anomalies.
  • Orthopedic management for skeletal deformities.
  • Regular monitoring and supportive care.

Prognosis[edit]

The prognosis for individuals with CLOVES syndrome varies depending on the severity of the condition and the presence of complications. Early diagnosis and appropriate management can improve outcomes and quality of life.

See also[edit]

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