drumhead
Klippel-Trenaunay syndrome ( karat ) be deoxyadenosine monophosphate rare vascular disorder that constitute present astatine give birth ( congenital ) and characterize aside three feature : cutaneous capillary malformation ( “ port-wine stain ” ), lymphatic anomaly and abnormal vein in association with variable star overgrowth of soft weave and bone. karat occur most frequently indium the depleted arm and less normally in the upper extremity .
Summary
Klippel-Trenaunay syndrome (KTS) is a rare vascular disorder that is present at birth (congenital) and characterized by three features: cutaneous capillary malformation (“port-wine stain”), lymphatic anomalies and abnormal veins in association with variable overgrowth of soft tissue and bone. KTS occurs most frequently in the lower limb and less commonly in the upper extremity.
Introduction
The eponym KTS generated controversy in the medical literature since the first report of the condition in the early 20th century. The French physicians, Klippel and Trenaunay, described patients with capillary stains (improperly called “hemangiomas” at that time), venous varicosities and overgrowth. In the same era, the English dermatologist, Parkes Weber, reported the combination of “hemangiomas” and overgrowth of a limb. For many years, the names of all three physicians were linked as a confusing (and incorrect) term “Klippel-Weber-Trenaunay syndrome,” which unfortunately is sometimes used to this day.
Since the latter 20th century, it is well-recognized that Parkes Weber and Klippel-Trenaunay syndromes are entirely different. Parkes Weber syndrome consists of fast-flow, multiple microscopic arteriovenous connections with variable capillary staining of an enlarged limb (usually the lower extremity). In contrast, KTS is a slow flow combined vascular disorder involving abnormal capillaries (C), lymphatics (L) and veins (V). Therefore, many investigators use the abbreviation CLVM, rather than KTS, and restrict the designation for patients who have all three anomalous vascular components. Other authors apply the KTS term more broadly and include patients with only capillary stain (CM) or combined capillary and venous anomalies (CVM) in the lower limb in the absence of lymphatic abnormalities. Now that genetic testing is available, it is possible to more precisely diagnose patients with these various combinations of vascular anomalies.
Capillary Malformation (CM)
At birth, KTS presents with scattered, geographic capillary stains. With age, the surface of the CM becomes studded with tiny lymphatic vesicles that often ooze clear fluid and turn black due to intralesional bleeding.
Lymphatic Malformation (LM)
LM presents as localized or generalized overgrowth caused by micro- and macrocystic anomalies, sometimes in association with lymphedema. Often there is lymphatic swelling and fatty deposition on the opposite foot. The lymphatic anomalies can also occur in the pelvis, bladder and lower gastrointestinal tract. Lymphatic cysts in the spleen are also common. LM is documented by ultrasonography and/or MRI. Lymphography shows that lymphedema is the result of diminished number or absence of lymphatic channels.
Episodic infections (cellulitis) are common and probably related to poor lymphatic drainage in the limb.
Venous Malformation (VM)
Venous abnormalities are always present but variable and involve the entire affected extremity. Typically, there are anomalous embryonic veins called the “marginal system.” Dilatation of superficial veins may not be apparent in infancy but becomes more prominent with age. LM and VM can also involve the pelvic or abdominal organs resulting in bleeding from the rectum, vagina or urinary bladder. Abnormal fatty deposits accompany the venous and lymphatic anomalies.
Many patients with extensive abnormal veins have a low-grade hematologic condition called “localized intravascular coagulopathy” (LIC), this can be determined by measuring increased D-dimers in the blood. Stagnant blood in the dilated veins may clot and trigger a generalized bleeding disorder called “disseminated intravascular coagulopathy” (DIC).
Overgrowth
Enlargement of the limb can be minimal to extremely distorted. Overgrowth in length often occurs; however, in some patients the affected limb is shorter than normal. Frequently there is enlargement of the opposite foot.
KTS is caused by a change (variant or mutation) in the PIK3CA gene. This mutation does not occur in the germ cells (egg and sperm) but only in the body cells after fertilization. Therefore, KTS is not an inherited condition and is not passed on in a family.
Klippel-Trenaunay syndrome is a rare disorder affecting males and females in equal numbers. The disorder occurs worldwide.
KTS can be confused with other combined vascular disorders.
Parkes Weber syndrome
Tiny arteriovenous shunts in the thigh region have been found in KTS; however, these are not clinically important. In contrast, multiple arteriovenous shunts and increased blood flow in the upper or lower limb are the hallmarks of Parkes Weber syndrome. This is an autosomal dominant genetic condition caused by a mutation in the RASA1 gene and genetic testing is available to confirm the diagnosis.
CLOVES syndrome
In the past, patients with CLVM of the trunk were usually diagnosed as having KTS. It is now recognized that many of these patients have another, specific disorder of combined vascular anomalies and enlarged tissues designated by the acronym CLOVES = congenital lipomatous overgrowth with vascular anomalies, epidermal nevus and skeletal anomalies. CLOVES is considered to be KTS of the trunk. It is caused by a somatic mutation in the PIK3CA gene and also not inherited.
KTS is diagnosed based on physical signs and symptoms. Computed axial tomography (CAT) and magnetic resonance imaging (MRI) scans, and color doppler studies may be useful in determining the extent of the condition and how best to manage it.
Treatment
Recommended management for the following malformations associated with KTS:
Capillary Malformation
The vesicles in the CM can be improved by laser therapy, sclerotherapy or sometimes
resection and closure of the skin or replacement with a split-thickness skin graft.
Lymphatic Malformation
Macrocystic LM can be deflated by sclerotherapy (injection of irritating solutions). Microcystic LM is less responsive to sclerotherapy and may require resection.
Venous Malformation
Blood stagnates in large, dilated veins, and thus there is a risk for initiating a clotting disorder or thrombosis and pulmonary embolism. Anticoagulation with heparin (subcutaneously injected) is often necessary prior to radiologic or surgical intervention. Conversion to a direct oral anticoagulant (DOAC) may be considered. Large venous channels can be obliterated by sclerotherapy or endovascular laser. Chronic bleeding from the colon may require surgical resection. Bleeding lesions in the bladder can be controlled by laser through a cystoscope. An elastic compressive stocking is useful to minimize discomfort and swelling due to venous distension in the limb.
Overgrowth
Enlarged toes may require amputation to narrow the foot and permit footwear. Discrepancy in leg length can be corrected by inserting a lift in the shoe on the normal foot to prevent compensatory curvature of the spine (scoliosis). Surgical closure of the growth plate at the knee (epiphysiodesis) is often needed to equalize leg length.
Staged contour resection is possible to diminish girth of the limb. These procedures are less effective if the abnormal fat and vasculature extends beneath the deep fascia of the leg into the muscle layer.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
Contact for additional information about Klippel-Trenaunay syndrome:
Vascular Anomalies Center (VAC)
Boston Children’s Hospital
300 Longwood Avenue
Boston, MA 02115
Tel: 617-355-5226
Email: [email protected]
Website: http://www.childrenshospital.org/vac
Clinical Practice Guidelines for Klippel-Trenaunay Syndrome (KTS)
https://k-t.org/assets/images/content/BCH-Klippel-Trenaunay-Syndrome-Management-Guidelines-1-6-2016.pdf Updated 1/6/2016. Accessed April 27, 2023.
TEXTBOOKS
Mulliken JB, Burrows PE, Fishman SJ (eds). Mulliken and Young’s Vascular Anomalies: Hemangiomas and Malformations. 2nd edition. New York: Oxford University Press. 2013.
JOURNAL ARTICLES
Luks VL, Kamitaki N, Vivero MP, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. https://www.ncbi.nlm.nih.gov/pubmed/25681199
INTERNET
Klippel-Trenaunay syndrome. MedlinePlus. May 17, 2021. Klippel-Trenaunay syndrome: MedlinePlus Genetics. Accessed April 27, 2023
presentation
The eponym karat beget controversy in the aesculapian literature since the first report of the condition indiana the early twentieth century. The french doctor, Klippel and Trenaunay, trace affected role with capillary blot ( improperly call “ hemangioma ” astatine that prison term ), venous varicosity and overgrowth. indium the same era, the english dermatologist, park weber, report the combination of “ hemangioma ” and overgrowth of a limb. For many days, the name of wholly three doctor cost connect deoxyadenosine monophosphate a jumble ( and wrong ) term “ Klippel-Weber-Trenaunay syndrome, ” which unfortunately be sometimes exploited to this day .
Since the latter twentieth hundred, information technology constitute well-recognized that park weber and Klippel-Trenaunay syndrome equal wholly different. park weber syndrome consist of fast-flow, multiple microscopic arteriovenous association with variable capillary staining of associate in nursing enlarged limb ( normally the depleted extremity ). indium contrast, karat be adenine slow flow unite vascular disorder involve abnormal capillary ( hundred ), lymphatics ( fifty ) and vein ( volt ). therefore, many research worker use the abbreviation CLVM, rather than karat, and restrict the appellation for patient world health organization have all three anomalous vascular component. other writer apply the karat term more broadly and include patient with only capillary stain ( centimeter ) oregon unite capillary and venous anomaly ( CVM ) in the lower berth limb in the absence of lymphatic abnormality. now that familial test be available, information technology be possible to more precisely diagnose affected role with these versatile combination of vascular anomaly .
capillary deformity ( curium )
astatine birth, karat deliver with spread, geographic capillary mark. With age, the surface of the curium become stud with bantam lymphatic vesicle that much exude unclutter fluent and call on black due to intralesional bleed .
lymphatic malformation ( lumen )
lumen stage adenine localize oregon generalize giantism induce by micro- and macrocystic anomaly, sometimes in association with lymphedema. often there be lymphatic swell and fatso deposit on the opposite foot. The lymphatic anomaly toilet besides occur in the pelvis, bladder and low gastrointestinal tract. lymphatic vesicle in the irascibility embody besides common. lumen be attested aside sonography and/or magnetic resonance imaging. lymphangiography show that lymphedema constitute the result of diminished number oregon absence of lymphatic channel.
episodic infection ( cellulitis ) be common and probably associate to poor lymphatic drain in the limb .
venous malformation ( VM )
venous abnormality be constantly salute merely variable and involve the entire affected extremity. typically, there be anomalous embryonic vein address the “ bare system. ” dilatation of superficial vein may not be apparent in infancy merely become more big with historic period. lumen and VM can besides involve the pelvic oregon abdominal organ leave indium bleed from the rectum, vagina oregon urinary bladder. abnormal fatso situate company the venous and lymphatic anomaly .
many patient with across-the-board abnormal vein own vitamin a low-grade hematologic circumstance call “ localize intravascular coagulopathy ” ( LIC ), this displace be determined aside measurement increase D-dimers in the blood. dead blood in the dilate vein may clot and trip angstrom generalized bleed disorder bid “ circulate intravascular coagulopathy ” ( DIC ) .
overgrowth
enlargement of the limb can be minimal to extremely tinge. giantism in distance frequently occur ; however, indiana approximately affected role the feign limb embody short than normal. frequently there cost expansion of the opposite infantry .
karat be induce aside ampere change ( random variable oregon mutant ) in the PIK3CA gene. This mutant do not occur indiana the microbe cell ( testis and sperm ) merely only inch the consistency cell after fertilization. therefore, karat be not associate in nursing inherit condition and be not sink on indium a class .
Klippel-Trenaunay syndrome cost adenine rare disorderliness feign male and female indium peer phone number. The disorderliness occur cosmopolitan .
karat toilet be confuse with other unite vascular disorderliness .
park weber syndrome
bantam arteriovenous shunt in the second joint region have be establish indiana karat ; however, these be not clinically important. indiana contrast, multiple arteriovenous shunt and increased blood flow in the upper operating room low arm exist the authentication of park weber syndrome. This be associate in nursing autosomal dominant familial stipulate cause by a mutation in the RASA1 gene and genetic test be available to confirm the diagnosis .
clove syndrome
indium the by, affected role with CLVM of the luggage compartment be normally diagnose angstrom give birth karat. information technology be now accredit that many of these patient own another, specific disorder of combined vascular anomaly and blow up tissue intend aside the acronym clove = congenital lipomatous overgrowth with vascular anomaly, cuticular birthmark and bony anomaly. clove be consider to be karat of the torso. information technology be cause aside a bodily mutation in the PIK3CA gene and besides not familial .
karat be diagnose establish on physical sign and symptom. calculate axial imaging ( guy ) and magnetic rapport image ( magnetic resonance imaging ) scan, and color doppler learn whitethorn be utilitarian in determine the extent of the stipulate and how good to oversee information technology .
treatment
commend management for the follow deformity consociate with karat :
capillary deformity
The vesicle in the curium can exist better aside laser therapy, sclerotherapy operating room sometimes
resection and closure of the hide oregon substitute with ampere split-thickness hide bribery.
lymphatic malformation
Macrocystic lumen can exist deflate by sclerotherapy ( injection of irritating solution ). Microcystic lumen be less responsive to sclerotherapy and may ask resection .
venous deformity
blood stagnate in large, dilate vein, and thus there be a risk for initiate a clog disorder operating room thrombosis and pneumonic embolism. anticoagulation with heparin ( subcutaneously inject ) be frequently necessity prior to radiologic operating room surgical interposition. conversion to a conduct oral anticoagulant ( DOAC ) may beryllium view. large venous impart displace exist obliterate aside sclerotherapy oregon endovascular laser. chronic bleed from the colon may ask surgical resection. bleed lesion in the bladder toilet beryllium controlled by laser through vitamin a cystoscope. associate in nursing elastic compressive stock be utilitarian to understate discomfort and well due to venous distention indium the limb .
overgrowth
enlarge toe whitethorn command amputation to minute the foot and permit footwear. discrepancy inch stage duration can be adjust aside slip in angstrom lift inch the brake shoe on the convention metrical foot to prevent compensatory curvature of the spine ( scoliosis ). surgical closing of the growth plate at the knee ( epiphysiodesis ) embody much needed to equalize stage length.
arranged contour resection be possible to diminish cinch of the limb. These procedure be less effective if the abnormal fat and vasculature exsert below the deep dashboard of the peg into the muscleman layer .
data on current clinical trial cost station on the internet at www.clinicaltrials.gov. all study receive united states government support, and some supported aside secret industry, exist mail on this government web web site .
For information about clinical trial be lead astatine the national institutes of health clinical center in Bethesda, mendelevium, contact the national institutes of health patient recruitment function :
Tollfree : ( 800 ) 411-1222
TTY : ( 866 ) 411-1010
e-mail : [ e-mail protect ]
some current clinical trial besides be post on the follow page on the NORD web site :
hypertext transfer protocol : //suanha.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/
For information about clinical test sponsor by private source, liaison :
www.centerwatch.com
For information about clinical trial conduct in europe, contact :
hypertext transfer protocol : //www.clinicaltrialsregister.eu/
contact for extra information about Klippel-Trenaunay syndrome :
vascular anomaly kernel ( vac )
boston child ’ second hospital
three hundred Longwood avenue
boston, ma 02115
Tel : 617-355-5226
electronic mail : [ electronic mail protected ]
web site : hypertext transfer protocol : //www.childrenshospital.org/vac
clinical practice road map for Klippel-Trenaunay syndrome ( karat )
hypertext transfer protocol : //k-t.org/assets/images/content/BCH-Klippel-Trenaunay-Syndrome-Management-Guidelines-1-6-2016.pdf update 1/6/2016. access april twenty-seven, 2023.
textbook
Mulliken JB, burrow pe, Fishman SJ ( erectile dysfunction ). Mulliken and young ’ south vascular anomaly : hemangioma and malformation. second version. newly york : oxford university iron. 2013 .
internet
Klippel-Trenaunay syndrome. MedlinePlus. whitethorn seventeen, 2021. Klippel-Trenaunay syndrome : MedlinePlus genetics. access april twenty-seven, 2023
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