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==Overview==
==Overview==


'''Parkes Weber Syndrome''' also known as (PKWS) is a rare vascular abnormality characterized by a cutaneous flush with underlying multiple CM (capillary malformation), VM (venuous malformation), LM (lymphatic malformation) and AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb. <ref>Eerola, I.; Boon, L. M.; Mulliken, J. B.; Burrows, P. E.; Dompmartin, A.; Watanabe, S.; Vanwijck, R.; Vikkula, M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 73: 1240-1249, 2003. PMID 14639529</ref> <ref>Mulliken, J. B.; Young, A. E. (eds.): Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co., 1988 </ref><ref>{{Cite journal|last=Lee BB.|first=|date=2012|title=Klippel-Trenaunay Syndrome: is this term still worthy to use?|url=|journal=Acta Phlebol|volume=13|pages=1-2|via=}}</ref>
'''Parkes Weber Syndrome''' also known as (PKWS) is a rare vascular abnormality characterized by a cutaneous flush with underlying multiple CM (capillary malformation), VM (venuous malformation), LM (lymphatic malformation) and AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb. <ref>Eerola, I.; Boon, L. M.; Mulliken, J. B.; Burrows, P. E.; Dompmartin, A.; Watanabe, S.; Vanwijck, R.; Vikkula, M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 73: 1240-1249, 2003. PMID 14639529</ref> <ref>Mulliken, J. B.; Young, A. E. (eds.): Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co., 1988 </ref><ref name=":0">{{Cite journal|last=Lee BB.|first=|date=2012|title=Klippel-Trenaunay Syndrome: is this term still worthy to use?|url=|journal=Acta Phlebol|volume=13|pages=1-2|via=}}</ref><ref name=":1">{{Cite web|url=https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome#sourcesforpage|title=Genetics home reference|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> Discovered by Frederick P. Weber in 1907, who noted two patients with port-wine stains and enlargement of the limb with accompanying enlargement of the vasculature leading to a palpable thrill. Malformations can be present since birth, and in some cases are controlled by genetic mutations transferred in an autosomal dominant pattern. This disease is clinically distinct from Klippel-Trenaunay syndrome but the two are often confused as the presentation is very similar. AVMs present in PWS serve as the hallmark for distinguishing the two syndromes.<ref name=":0" /><ref>{{Cite journal|last=Gloviczki|first=P|date=2009|title=Vascular malformations: an update.|url=https://www.ncbi.nlm.nih.gov/pubmed/19713211|journal=Perspectives in vascular surgery and endovascular therapy|volume=|pages=|via=}}</ref>


Discovered by Frederick P. Weber in 1907, who noted two patients with port-wine stains and enlargement of the limb with accompanying enlargement of the vasculature leading to a palpable thrill. Recently a disorder in the RASA1 gene has been implicated in development of this syndrome.<ref>{{Cite journal|last=N|first=Revencu|date=2008|title=Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.|url=https://www.ncbi.nlm.nih.gov/pubmed/18446851|journal=Hum mutat|volume=29|pages=959-965|via=}}</ref>  
Recently a disorder in the RASA1 gene has been implicated in development of this syndrome.<ref>{{Cite journal|last=N|first=Revencu|date=2008|title=Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.|url=https://www.ncbi.nlm.nih.gov/pubmed/18446851|journal=Hum mutat|volume=29|pages=959-965|via=}}</ref> F. Parkes Weber's (1863-1962) name is also attached to hereditary hemorrhagic telangiectasia, Sturge-Weber syndrome, Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome.<br />
 
This syndrome was described by the same F. Parkes Weber (1863-1962) whose name is also attached to hereditary hemorrhagic telangiectasia, Sturge-Weber syndrome, Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome.
 
<br />
==Historical Perspective==
==Historical Perspective==


*Parkes-Weber Syndrome was first discovered by Frederick Parkes Weber, an English dermatologist, in 1907.
*Parkes-Weber Syndrome was first discovered by Frederick Parkes Weber, an English dermatologist, in 1907.
*In 2003, RASA1 mutations were first identified in the pathogenesis of this syndrome.
*In 2008, RASA1 mutations were first comfirmed in the pathogenesis of this syndrome, along with other fast-flow vascular syndromes.
*In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].
*There is no known cure for PWS, although symptomatic control is available in the form of embolization and corrective surgery depending on the implicit malformations.
==Classification==
 
*[Disease name] may be classified according to [classification method] into [number] subtypes/groups:
 
:*[group1]
:*[group2]
:*[group3]
 
*Other variants of [disease name] include [disease subtype 1], [disease subtype 2], and [disease subtype 3].
   
   
==Pathophysiology==
==Pathophysiology==
Gene map locus is 5q13.3.
Gene map locus is 5q13.1<ref name=":2">{{Cite journal|last=SZELIGA|first=Adrianna|date=September 2019|title=Parkes Weber Syndrome.|url=http://www.ojs.ukw.edu.pl/index.php/johs/article/view/7441|journal=Journal of Health, education and sport|volume=|pages=|via=}}</ref>.


Six families reported by Eerola et al. in 2003, manifested atypical capillary malformations associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. They named this association CM-AVM for 'capillary malformation-arteriovenous malformation' and found mutation in the RASA1 gene in affected members of these families.
Six families reported by Eerola et al. in 2003, manifested atypical capillary malformations associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. They named this association CM-AVM for 'capillary malformation-arteriovenous malformation' and found mutation in the RASA1 gene in affected members of these families.


*The pathogenesis of [disease name] is characterized by [feature1], [feature2], and [feature3].
*The pathogenesis is not well understood at this time, but theories have been put forward in literature:
*The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
**Congenital blockage of deep veins draining the affected limb
*On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
**Germ layer (mesodermal) irregularity leading to abnormal development of soft tissue and subsequent development of high flow AVMs.
*On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
**RASA1 gene mutation has been associated with the development of PWS, involving the tyrosine kinase pathway. This gene is responsible for regulation of cellular growth and differentiation. It codes for the p120-RasGAP protein responsible for various growth factor receptors controlling stem cell migration and proliferation. In this disease the mutated gene codes for a non-functioning protein.
*On gross pathology, capillary malformations, high flow arteriovenous fistulas, VMs and LMs are characteristic.


==Clinical Features==
==Clinical Features==
PWS can present as limb hypertrophy associated with cutaneous flush and port-wine stains, and varicose veins showing evidence of high flow AV shunting.
PWS can present with:
 
* Upper or lower limb hypertrophy. More commonly the lower limb is involved. Patients with AVFs (arteriovenuous fistula) have a greater degree of hypertrophy.
*Bruit or thrill over the affected limb.
* Abnormal bleeding/ recurrent bleeding from skin lesions
* Large, flat, pink discolouration on the skin known as a port-wine stain (naevus flammeus)
* Enlarged veins showing evidence of high flow AV shunting.
* Capillary malformations resulting in petecheia on face, arms and legs
*[[Telangiectasia]]
*Venous malformations
*Varicose veins
*Congestive heart failure


==Differentiating Parkes-Weber Syndrome from other Diseases==


==Differentiating [disease name] from other Diseases==
*Parkes Weber Syndrome must be differentiated from other diseases that cause port-wine stains and capillary malformations, such as:
*Parkes Weber Syndrome must be differentiated from other diseases that cause port-wine stains and capillary malformations, such as:


:*Klippel-Trenauney Syndrome
:*Klippel-Trenaunay Syndrome: KTS consists of the following triad of capillary malformation, venous malformation and lymphatic malformation. AVMs are present only in PWS.
:*[Differential dx2]
:*'''[[Sturge-Weber syndrome]]:''' Sturge-Weber syndrome is characterized by a triad of facial port wine stains (classically the area of the ophthalmic and/or maxillary branch (segments V1/V2) of the trigeminal nerve), leptomeningeal angiomatosis, and ocular involvement. The capillary malformation associated with SWS  usually presents as both upper and lower eyelid staining, and is often bilateral.<ref>{{Cite journal|last=Tallman|first=B|date=1991|title=Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications.|url=|journal=Pediatrics|volume=|pages=|via=}}</ref>
:*[Differential dx3]
:*'''[[Proteus syndrome]]''' — Proteus syndrome is an extremely rare disorder characterized by random overgrowth of body parts. The cause is considered to be mosaicism for a somatic activating mutation in the ''AKT1'' oncogene.
:*'''[[CLOVES syndrome|CLOVES]] syndrome'''
:*'''[[Capillary malformation-arteriovenous malformation syndrome]]'''
   
   
==Epidemiology and Demographics==
==Epidemiology and Demographics==
* The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
* Exact prevalence of PWS is unknown.<ref name=":1" />
* In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].
===Age===
*Patients of all age groups may develop [disease name].
*[Disease name] is more commonly observed among patients aged [age range] years old.
*[Disease name] is more commonly observed among [elderly patients/young patients/children].
===Gender===
*[Disease name] affects men and women equally.
*[Gender 1] are more commonly affected with [disease name] than [gender 2].
* The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.
===Race===
*There is no racial predilection for [disease name].
*[Disease name] usually affects individuals of the [race 1] race.
*[Race 2] individuals are less likely to develop [disease name].


==Risk Factors==
== Natural History, Complications and Prognosis==
*Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].


== Natural History, Complications and Prognosis==
*Early clinical features include
*The majority of patients with [disease name] remain asymptomatic for [duration/years].
** a capillary malformation resulting in pink, warm birthmarks flush with the skin called a port-wine stain
*Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
** frequent or recurrent bleeding from malformations near the skin surface
*If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
** cellulitis
*Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
** varying degrees of hypertrophy of a limb (usually a leg)
*Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].
** pain in the affected limb which varies in severity
** increased blood flow through an arteriovenous malformation leading to cardiac issues
*If left untreated, patients with PWS progress to fatal high output heart failure, or excessive bleeding can be cause of death. Other complications include cutaneous ischemia, cardiac hypertrophy and limb amputation.<ref name=":2" />
*Prognosis is generally fair. As PWS is a progressive condition, management depends on the extent of the overgrowth and the problems it causes. Any comorbidities, the condition of the patient's heart, refractory nature of the disease, overall health of the patient influence outcomes along with timely diagnosis and intervention. Overgrowth is progressive until epiphyseal closure.


== Diagnosis ==
== Diagnosis ==
<br />
===Clinical Presentation===
* Enlarged arteries and veins
* Capillary or venous malformations
* Cutaneous blush
* Arteriovenous fistulas
* Enlargement of a limb
===Diagnostic Criteria===
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
:*[criterion 1]
:*[criterion 2]
:*[criterion 3]
:*[criterion 4]
=== Symptoms ===
*[Disease name] is usually asymptomatic.
*Symptoms of [disease name] may include the following:
:*[symptom 1]
:*[symptom 2]
:*[symptom 3]
:*[symptom 4]
:*[symptom 5]
:*[symptom 6]
=== Physical Examination ===
*Patients with [disease name] usually appear [general appearance].
*Physical examination may be remarkable for:
:*[finding 1]
:*[finding 2]
:*[finding 3]
:*[finding 4]
:*[finding 5]
:*[finding 6]
=== Laboratory Findings ===
*There are no specific laboratory findings associated with [disease name].


*A  [positive/negative] [test name] is diagnostic of [disease name].
*Diagnosis of PWS is a difficult process and is frequently misdiagnosed as KTS. It is made on clinical grounds. A combination of cutaneous capillary-Lymphatic-venuous malformations along with arterio-venous malformations as the main defect define the syndrome.
*An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
*Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
   
   
===Imaging Findings===
===Imaging Findings===
*There are no [imaging study] findings associated with [disease name].
*Imaging modalities useful to diagnose and map vascular malformations include:
*** '''Magnetic resonance imaging (MRI):''' This is a high-resolution scan employed to gauge the extent of the hypertrophy (overgrowth) of tissue and provides insight to the problems due to it. Subsequently, MR projection angiography may be used to distinguish PWS from KTS noninvasively.  
*[Imaging study 1] is the imaging modality of choice for [disease name].
*** '''Ultrasound (also called ultrasonography):''' An ultrasound helps to visualise vascular system abnormalities and can determine the blood flow through the AVM. Antenatal testing can sometimes allude to malformations.
*On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
*** '''Computerized tomography scan (also called a CT or CAT scan):''' A CT scan shows detailed images of the area in slices and is especially helpful for evaluating the bones in the affected limb.
*[Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].
*** '''Angiogram''': A dye is injected which outlines the vasculature, providing a detailed view of the blood vessels in the affected limb. This is the gold standard to visualise the location and degree of AVMs. Digital Subtraction Angiography can be used to differentiate between high and low flow AVMs. This technique is used mostly for patients who are candidates for embolization therapy.
*** '''Echocardiogram:''' To check the condition of the patients heart.
=== Other Diagnostic Studies ===
*[Disease name] may also be diagnosed using [diagnostic study name].
*Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].


<br />
== Treatment ==
== Treatment ==
=== Medical Therapy ===
=== Medical Therapy ===
*There is no treatment for [disease name]; the mainstay of therapy is supportive care.
 
* There is no treatment for PWS; the mainstay of therapy is supportive care. Depending on the extent of malformations, embolization can be done to block off AVMs and to prevent overgrowth of limbs.  
*The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
*The use of compressive stockings can prevent edema and minimize discomfort.<ref name=":2" />
*[Medical therapy 1] acts by [mechanism of action 1].
 
*Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].
=== Surgery ===
=== Surgery ===
*Surgery is the mainstay of therapy for [disease name].
 
*[Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
*Embolization in conjunction with removal of AVMs is the most common approach to the treatment of PWS.<ref>{{Cite journal|last=Banzic|first=I|date=2017 July|title=Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review|url=https://www.ncbi.nlm.nih.gov/pubmed/27511883|journal=Phlebology|volume=|pages=|via=}}</ref>
*[Surgical procedure] can only be performed for patients with [disease stage] [disease name].
*A recent case report suggests early amputation of the limb as having better outcomes than placing stents in high flow AVMs.<ref>{{Cite journal|last=Acar|first=Zeydin|date=|title=Short- and mid-term effects of covered stent implantation on extremity findings and heart failure in Parkes Weber syndrome: a case report|url=https://academic.oup.com/ehjcr/advance-article/doi/10.1093/ehjcr/ytaa046/5802614|journal=European Heart Journal - Case Reports|volume=|pages=|via=}}</ref>
   
   
=== Prevention ===
=== Prevention ===
*PWS is a genetic disease as such there are no primary preventive measures available.
*PWS is a genetic disease as such there are no primary preventive measures available.


*Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].
<br />
 
===Multi Sliced CT===
===Multi Sliced CT===
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Latest revision as of 17:14, 5 April 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]


Overview

Parkes Weber Syndrome also known as (PKWS) is a rare vascular abnormality characterized by a cutaneous flush with underlying multiple CM (capillary malformation), VM (venuous malformation), LM (lymphatic malformation) and AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb. [1] [2][3][4] Discovered by Frederick P. Weber in 1907, who noted two patients with port-wine stains and enlargement of the limb with accompanying enlargement of the vasculature leading to a palpable thrill. Malformations can be present since birth, and in some cases are controlled by genetic mutations transferred in an autosomal dominant pattern. This disease is clinically distinct from Klippel-Trenaunay syndrome but the two are often confused as the presentation is very similar. AVMs present in PWS serve as the hallmark for distinguishing the two syndromes.[3][5]

Recently a disorder in the RASA1 gene has been implicated in development of this syndrome.[6] F. Parkes Weber's (1863-1962) name is also attached to hereditary hemorrhagic telangiectasia, Sturge-Weber syndrome, Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome.

Historical Perspective

  • Parkes-Weber Syndrome was first discovered by Frederick Parkes Weber, an English dermatologist, in 1907.
  • In 2008, RASA1 mutations were first comfirmed in the pathogenesis of this syndrome, along with other fast-flow vascular syndromes.
  • There is no known cure for PWS, although symptomatic control is available in the form of embolization and corrective surgery depending on the implicit malformations.

Pathophysiology

Gene map locus is 5q13.1[7].

Six families reported by Eerola et al. in 2003, manifested atypical capillary malformations associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. They named this association CM-AVM for 'capillary malformation-arteriovenous malformation' and found mutation in the RASA1 gene in affected members of these families.

  • The pathogenesis is not well understood at this time, but theories have been put forward in literature:
    • Congenital blockage of deep veins draining the affected limb
    • Germ layer (mesodermal) irregularity leading to abnormal development of soft tissue and subsequent development of high flow AVMs.
    • RASA1 gene mutation has been associated with the development of PWS, involving the tyrosine kinase pathway. This gene is responsible for regulation of cellular growth and differentiation. It codes for the p120-RasGAP protein responsible for various growth factor receptors controlling stem cell migration and proliferation. In this disease the mutated gene codes for a non-functioning protein.
  • On gross pathology, capillary malformations, high flow arteriovenous fistulas, VMs and LMs are characteristic.

Clinical Features

PWS can present with:

  • Upper or lower limb hypertrophy. More commonly the lower limb is involved. Patients with AVFs (arteriovenuous fistula) have a greater degree of hypertrophy.
  • Bruit or thrill over the affected limb.
  • Abnormal bleeding/ recurrent bleeding from skin lesions
  • Large, flat, pink discolouration on the skin known as a port-wine stain (naevus flammeus)
  • Enlarged veins showing evidence of high flow AV shunting.
  • Capillary malformations resulting in petecheia on face, arms and legs
  • Telangiectasia
  • Venous malformations
  • Varicose veins
  • Congestive heart failure

Differentiating Parkes-Weber Syndrome from other Diseases

  • Parkes Weber Syndrome must be differentiated from other diseases that cause port-wine stains and capillary malformations, such as:
  • Klippel-Trenaunay Syndrome: KTS consists of the following triad of capillary malformation, venous malformation and lymphatic malformation. AVMs are present only in PWS.
  • Sturge-Weber syndrome: Sturge-Weber syndrome is characterized by a triad of facial port wine stains (classically the area of the ophthalmic and/or maxillary branch (segments V1/V2) of the trigeminal nerve), leptomeningeal angiomatosis, and ocular involvement. The capillary malformation associated with SWS usually presents as both upper and lower eyelid staining, and is often bilateral.[8]
  • Proteus syndrome — Proteus syndrome is an extremely rare disorder characterized by random overgrowth of body parts. The cause is considered to be mosaicism for a somatic activating mutation in the AKT1 oncogene.
  • CLOVES syndrome
  • Capillary malformation-arteriovenous malformation syndrome

Epidemiology and Demographics

  • Exact prevalence of PWS is unknown.[4]

Natural History, Complications and Prognosis

  • Early clinical features include
    • a capillary malformation resulting in pink, warm birthmarks flush with the skin called a port-wine stain
    • frequent or recurrent bleeding from malformations near the skin surface
    • cellulitis
    • varying degrees of hypertrophy of a limb (usually a leg)
    • pain in the affected limb which varies in severity
    • increased blood flow through an arteriovenous malformation leading to cardiac issues
  • If left untreated, patients with PWS progress to fatal high output heart failure, or excessive bleeding can be cause of death. Other complications include cutaneous ischemia, cardiac hypertrophy and limb amputation.[7]
  • Prognosis is generally fair. As PWS is a progressive condition, management depends on the extent of the overgrowth and the problems it causes. Any comorbidities, the condition of the patient's heart, refractory nature of the disease, overall health of the patient influence outcomes along with timely diagnosis and intervention. Overgrowth is progressive until epiphyseal closure.

Diagnosis

  • Diagnosis of PWS is a difficult process and is frequently misdiagnosed as KTS. It is made on clinical grounds. A combination of cutaneous capillary-Lymphatic-venuous malformations along with arterio-venous malformations as the main defect define the syndrome.

Imaging Findings

  • Imaging modalities useful to diagnose and map vascular malformations include:
      • Magnetic resonance imaging (MRI): This is a high-resolution scan employed to gauge the extent of the hypertrophy (overgrowth) of tissue and provides insight to the problems due to it. Subsequently, MR projection angiography may be used to distinguish PWS from KTS noninvasively.
      • Ultrasound (also called ultrasonography): An ultrasound helps to visualise vascular system abnormalities and can determine the blood flow through the AVM. Antenatal testing can sometimes allude to malformations.
      • Computerized tomography scan (also called a CT or CAT scan): A CT scan shows detailed images of the area in slices and is especially helpful for evaluating the bones in the affected limb.
      • Angiogram: A dye is injected which outlines the vasculature, providing a detailed view of the blood vessels in the affected limb. This is the gold standard to visualise the location and degree of AVMs. Digital Subtraction Angiography can be used to differentiate between high and low flow AVMs. This technique is used mostly for patients who are candidates for embolization therapy.
      • Echocardiogram: To check the condition of the patients heart.


Treatment

Medical Therapy

  • There is no treatment for PWS; the mainstay of therapy is supportive care. Depending on the extent of malformations, embolization can be done to block off AVMs and to prevent overgrowth of limbs.
  • The use of compressive stockings can prevent edema and minimize discomfort.[7]

Surgery

  • Embolization in conjunction with removal of AVMs is the most common approach to the treatment of PWS.[9]
  • A recent case report suggests early amputation of the limb as having better outcomes than placing stents in high flow AVMs.[10]

Prevention

  • PWS is a genetic disease as such there are no primary preventive measures available.


Multi Sliced CT

See Also

References

  1. Eerola, I.; Boon, L. M.; Mulliken, J. B.; Burrows, P. E.; Dompmartin, A.; Watanabe, S.; Vanwijck, R.; Vikkula, M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 73: 1240-1249, 2003. PMID 14639529
  2. Mulliken, J. B.; Young, A. E. (eds.): Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co., 1988
  3. 3.0 3.1 Lee BB. (2012). "Klippel-Trenaunay Syndrome: is this term still worthy to use?". Acta Phlebol. 13: 1–2.
  4. 4.0 4.1 "Genetics home reference".
  5. Gloviczki, P (2009). "Vascular malformations: an update". Perspectives in vascular surgery and endovascular therapy.
  6. N, Revencu (2008). "Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations". Hum mutat. 29: 959–965.
  7. 7.0 7.1 7.2 SZELIGA, Adrianna (September 2019). "Parkes Weber Syndrome". Journal of Health, education and sport.
  8. Tallman, B (1991). "Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications". Pediatrics.
  9. Banzic, I (2017 July). "Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review". Phlebology. Check date values in: |date= (help)
  10. Acar, Zeydin. "Short- and mid-term effects of covered stent implantation on extremity findings and heart failure in Parkes Weber syndrome: a case report". European Heart Journal - Case Reports.


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