Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?

Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex...
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Autor*in:	Li Xin Su [verfasserIn] Yi Sun [verfasserIn] Zhenfeng Wang [verfasserIn] Deming Wang [verfasserIn] Xitao Yang [verfasserIn] Lianzhou Zheng [verfasserIn] Mingzhe Wen [verfasserIn] Xindong Fan [verfasserIn] Ren Cai [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation

Übergeordnetes Werk:	In: Hereditas - BMC, 2003, 159(2022), 1, Seite 5
Übergeordnetes Werk:	volume:159 ; year:2022 ; number:1 ; pages:5

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s41065-021-00217-6

Katalog-ID:	DOAJ078742226

Internformat


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allfields	10.1186/s41065-021-00217-6 doi (DE-627)DOAJ078742226 (DE-599)DOAJ6565665ccdfb45d3b0e992979bab5140 DE-627 ger DE-627 rakwb eng QH426-470 Li Xin Su verfasserin aut Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS? 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies. PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation Genetics Yi Sun verfasserin aut Zhenfeng Wang verfasserin aut Deming Wang verfasserin aut Xitao Yang verfasserin aut Lianzhou Zheng verfasserin aut Mingzhe Wen verfasserin aut Xindong Fan verfasserin aut Ren Cai verfasserin aut In Hereditas BMC, 2003 159(2022), 1, Seite 5 (DE-627)356883515 (DE-600)2092962-6 16015223 nnns volume:159 year:2022 number:1 pages:5 https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/article/6565665ccdfb45d3b0e992979bab5140 kostenfrei https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/toc/1601-5223 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 159 2022 1 5
spelling	10.1186/s41065-021-00217-6 doi (DE-627)DOAJ078742226 (DE-599)DOAJ6565665ccdfb45d3b0e992979bab5140 DE-627 ger DE-627 rakwb eng QH426-470 Li Xin Su verfasserin aut Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS? 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies. PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation Genetics Yi Sun verfasserin aut Zhenfeng Wang verfasserin aut Deming Wang verfasserin aut Xitao Yang verfasserin aut Lianzhou Zheng verfasserin aut Mingzhe Wen verfasserin aut Xindong Fan verfasserin aut Ren Cai verfasserin aut In Hereditas BMC, 2003 159(2022), 1, Seite 5 (DE-627)356883515 (DE-600)2092962-6 16015223 nnns volume:159 year:2022 number:1 pages:5 https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/article/6565665ccdfb45d3b0e992979bab5140 kostenfrei https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/toc/1601-5223 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 159 2022 1 5
allfields_unstemmed	10.1186/s41065-021-00217-6 doi (DE-627)DOAJ078742226 (DE-599)DOAJ6565665ccdfb45d3b0e992979bab5140 DE-627 ger DE-627 rakwb eng QH426-470 Li Xin Su verfasserin aut Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS? 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies. PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation Genetics Yi Sun verfasserin aut Zhenfeng Wang verfasserin aut Deming Wang verfasserin aut Xitao Yang verfasserin aut Lianzhou Zheng verfasserin aut Mingzhe Wen verfasserin aut Xindong Fan verfasserin aut Ren Cai verfasserin aut In Hereditas BMC, 2003 159(2022), 1, Seite 5 (DE-627)356883515 (DE-600)2092962-6 16015223 nnns volume:159 year:2022 number:1 pages:5 https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/article/6565665ccdfb45d3b0e992979bab5140 kostenfrei https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/toc/1601-5223 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 159 2022 1 5
allfieldsGer	10.1186/s41065-021-00217-6 doi (DE-627)DOAJ078742226 (DE-599)DOAJ6565665ccdfb45d3b0e992979bab5140 DE-627 ger DE-627 rakwb eng QH426-470 Li Xin Su verfasserin aut Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS? 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies. PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation Genetics Yi Sun verfasserin aut Zhenfeng Wang verfasserin aut Deming Wang verfasserin aut Xitao Yang verfasserin aut Lianzhou Zheng verfasserin aut Mingzhe Wen verfasserin aut Xindong Fan verfasserin aut Ren Cai verfasserin aut In Hereditas BMC, 2003 159(2022), 1, Seite 5 (DE-627)356883515 (DE-600)2092962-6 16015223 nnns volume:159 year:2022 number:1 pages:5 https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/article/6565665ccdfb45d3b0e992979bab5140 kostenfrei https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/toc/1601-5223 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 159 2022 1 5
allfieldsSound	10.1186/s41065-021-00217-6 doi (DE-627)DOAJ078742226 (DE-599)DOAJ6565665ccdfb45d3b0e992979bab5140 DE-627 ger DE-627 rakwb eng QH426-470 Li Xin Su verfasserin aut Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS? 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies. PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation Genetics Yi Sun verfasserin aut Zhenfeng Wang verfasserin aut Deming Wang verfasserin aut Xitao Yang verfasserin aut Lianzhou Zheng verfasserin aut Mingzhe Wen verfasserin aut Xindong Fan verfasserin aut Ren Cai verfasserin aut In Hereditas BMC, 2003 159(2022), 1, Seite 5 (DE-627)356883515 (DE-600)2092962-6 16015223 nnns volume:159 year:2022 number:1 pages:5 https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/article/6565665ccdfb45d3b0e992979bab5140 kostenfrei https://doi.org/10.1186/s41065-021-00217-6 kostenfrei https://doaj.org/toc/1601-5223 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 159 2022 1 5
language	English
source	In Hereditas 159(2022), 1, Seite 5 volume:159 year:2022 number:1 pages:5
sourceStr	In Hereditas 159(2022), 1, Seite 5 volume:159 year:2022 number:1 pages:5
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation Genetics
isfreeaccess_bool	true
container_title	Hereditas
authorswithroles_txt_mv	Li Xin Su @@aut@@ Yi Sun @@aut@@ Zhenfeng Wang @@aut@@ Deming Wang @@aut@@ Xitao Yang @@aut@@ Lianzhou Zheng @@aut@@ Mingzhe Wen @@aut@@ Xindong Fan @@aut@@ Ren Cai @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	356883515
id	DOAJ078742226
language_de	englisch
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callnumber-first	Q - Science
author	Li Xin Su
spellingShingle	Li Xin Su misc QH426-470 misc PIK3CA-related overgrowth spectrum misc Parks weber syndrome misc PROS misc PIK3CA misc Vascular malformation misc Genetics Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?
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topic_title	QH426-470 Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS? PIK3CA-related overgrowth spectrum Parks weber syndrome PROS PIK3CA Vascular malformation
topic	misc QH426-470 misc PIK3CA-related overgrowth spectrum misc Parks weber syndrome misc PROS misc PIK3CA misc Vascular malformation misc Genetics
topic_unstemmed	misc QH426-470 misc PIK3CA-related overgrowth spectrum misc Parks weber syndrome misc PROS misc PIK3CA misc Vascular malformation misc Genetics
topic_browse	misc QH426-470 misc PIK3CA-related overgrowth spectrum misc Parks weber syndrome misc PROS misc PIK3CA misc Vascular malformation misc Genetics
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title	Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?
ctrlnum	(DE-627)DOAJ078742226 (DE-599)DOAJ6565665ccdfb45d3b0e992979bab5140
title_full	Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?
author_sort	Li Xin Su
journal	Hereditas
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author_browse	Li Xin Su Yi Sun Zhenfeng Wang Deming Wang Xitao Yang Lianzhou Zheng Mingzhe Wen Xindong Fan Ren Cai
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author-letter	Li Xin Su
doi_str_mv	10.1186/s41065-021-00217-6
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title_sort	complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or pros?
callnumber	QH426-470
title_auth	Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?
abstract	Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies.
abstractGer	Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies.
abstract_unstemmed	Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies.
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container_issue	1
title_short	Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?
url	https://doi.org/10.1186/s41065-021-00217-6 https://doaj.org/article/6565665ccdfb45d3b0e992979bab5140 https://doaj.org/toc/1601-5223
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Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?

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