Vascular anomalies: Difference between revisions

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* [[Somatic]] activating [[mutations]] in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an [[enzyme]] functioning in cell growth, proliferation, differentiation, and survival.<ref name="urlwww.issva.org">{{cite web |url=http://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf |title=www.issva.org |format= |work= |accessdate=}}</ref>
* [[Somatic]] activating [[mutations]] in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an [[enzyme]] functioning in cell growth, proliferation, differentiation, and survival.<ref name="urlwww.issva.org">{{cite web |url=http://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf |title=www.issva.org |format= |work= |accessdate=}}</ref>
* Clinical and [[radiological]] findings are often sufficient to form the [[diagnosis]]. Inconclusive cases my require [[biopsy]]. [[Surgical resection]] is the often the preferred treatment and is more effective than [[sclerotherapy]], the alternative therapy.<ref name="pmid25298836" /><ref name="pmid24322574" />
* Clinical and [[radiological]] findings are often sufficient to form the [[diagnosis]]. Inconclusive cases my require [[biopsy]]. [[Surgical resection]] is the often the preferred treatment and is more effective than [[sclerotherapy]], the alternative therapy.<ref name="pmid25298836" /><ref name="pmid24322574" />
==Vascular malformations associated with other anomalies==
===Klippel-Trenaunay syndrome===
* First described by Klippel and Trenaunay in 1900, this [[congeital syndrome]] is characterized by presence of [[capillary malformations]], [[venous malformations]], and [[soft tissues]] and [[bone]] [[hypertrophy]]. [[Lymphatic malformations]] may or may not be present. [[Capillary malformations]] typically present in form of [[capillary hemangioma]] and can occur anywhere on the [[body]] while [[venous]] and [[lymphatic malformations]], and [[soft tissue]] and [[bone]] [[hypertrophy]] usually involves the [[extremities]].<ref name="pmid26451379">{{cite journal |vauthors=Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM |title=Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? |journal=Biomed Res Int |volume=2015 |issue= |pages=786519 |date=2015 |pmid=26451379 |pmc=4588354 |doi=10.1155/2015/786519 |url=}}</ref><ref name="pmid25427442">{{cite journal |vauthors=Withana M, Rodrigo C, Shivanthan MC, Warnakulasooriya S, Wimalachandra M, Gooneratne L, Rajapakse S |title=Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report |journal=J Med Case Rep |volume=8 |issue= |pages=390 |date=November 2014 |pmid=25427442 |pmc=4289367 |doi=10.1186/1752-1947-8-390 |url=}}</ref><ref name="pmid25293688">{{cite journal |vauthors=Ricks CB, Grandhi R, Ducruet AF |title=Klippel-Trenaunay syndrome and cavernous malformations |journal=BMJ Case Rep |volume=2014 |issue= |pages= |date=October 2014 |pmid=25293688 |pmc=4187537 |doi=10.1136/bcr-2014-207486 |url=}}</ref><ref name="pmid28458832">{{cite journal |vauthors=Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T |title=A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs |journal=J Surg Case Rep |volume=2017 |issue=2 |pages=rjx024 |date=February 2017 |pmid=28458832 |pmc=5400491 |doi=10.1093/jscr/rjx024 |url=}}</ref><ref name="pmid27921060">{{cite journal |vauthors=Tetangco EP, Arshad HM, Silva R |title=Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia |journal=ACG Case Rep J |volume=3 |issue=4 |pages=e161 |date=August 2016 |pmid=27921060 |pmc=5126491 |doi=10.14309/crj.2016.134 |url=}}</ref>
* Clinical manifestations are unilateral in 85% of the cases and may include localized pain and discomfort, leg length discrepancy due to [[hemihypertrophy]], [[developmental delay]], limb abnormalities such as polydactyly, macrodactyly, syndactyly, [[thrombophlebitis]], [[osteomyelitis]], pathological [[fractures]], [[heart failure]], [[erysipelas]], [[venous thrombosis]] due to [[malformations]], [[pulmonary embolism]], [[gastrointestinal]] bleeding due to venous overload in the internal iliac vein and ophthalmic abnormalities such as [[telangiectasia]], orbital varix, [[strabismus]], oculosympathetic palsy, [[Marcus-Gunn pupil]], [[iris coloboma]] and heterochromia, [[cataracts]], persistent fetal vasculature and [[varicosities]].<ref name="pmid28458832"></ref><ref name="pmid27921060"></ref><ref name="pmid25293688"></ref><ref name="pmid29930667">{{cite journal |vauthors=Chagas CAA, Pires LAS, Babinski MA, Leite TFO |title=Klippel-Trenaunay and Parkes-Weber syndromes: two case reports |journal=J Vasc Bras |volume=16 |issue=4 |pages=320–324 |date=2017 |pmid=29930667 |pmc=5944310 |doi=10.1590/1677-5449.005417 |url=}}</ref>
* [[Etiology]] and [[pathogenesis]] have not been established yet. Some suggestions include PIK3CA mutations, [[polygenic]] [[inheritance]], VG5Q mutation and obstruction of the [[venous]] system.<ref name="pmid26451379"></ref><ref name="pmid28458832"></ref><ref name="pmid29930667"></ref>
* [[Diagnosis]] can be made on clinical manifestations and can be confirmed by [[Doppler ultrasound]] and [[magnetic resonance angiography]]. Management depends on clinical manifestations.<ref name="pmid28458832"></ref><ref name="pmid29930667"></ref><ref name="pmid25293688"></ref><ref name="pmid28458832"></ref>
===Parkes Weber syndrome===
*  Characterized by a [[cutaneous]] flush with underlying multiple micro-AVFs ([[arteriovenous]] fistulas), in association with [[soft tissue]] and skeletal hypertrophy of the affected limb. Clinical Presentation enlarged [[arteries]] and [[veins]], [[capillary]] or [[venous]] [[malformations]], [[cutaneous]] blush, [[arteriovenous fistulas]], and enlargement of [[limb]].
* Mutation in the RASA1 gene has been found to be associated with this syndrome.
* To learn more about Parkes Weber syndrome, click here.
===Servelle-Martorell syndrome===
* Also called [[phlebectatic osteohypoplastic angiodysplasia]], this rare [[syndrome]] is characterized by [[venous malformations]] such as abnormal location of [[vein]], partial or complete absence of valves, and/or venous [[hypoplasia]] or [[aplasia]] and undergrowth of [[bone]]. These abnormalities may also be associated with [[limb hypertrophy]] and [[arterial malformations]].<ref name="pmid18454870">{{cite journal |vauthors=Karuppal R, Raman RV, Valsalan BP, Gopakumar Ts, Kumaran CM, Vasu CK |title=Servelle-Martorell syndrome with extensive upper limb involvement: a case report |journal=J Med Case Rep |volume=2 |issue= |pages=142 |date=May 2008 |pmid=18454870 |pmc=2394530 |doi=10.1186/1752-1947-2-142 |url=}}</ref>
* Clinical manifestations may include [[cutaneous]] compressible [[lesions]] due to [[malformations]], [[cellulitis]], [[lesion]] limb shortening, [[joint]] and [[soft tissue]] pain and swelling, tortuous [[limbs]], reduced [[muscle]] mass, [[venous thrombosis]], consumption [[coagulopathy]], pathological [[fractures]] and [[bone]] tenderness.<ref name="pmid18454870"></ref>
* Combination of clinical and [[radiological]] findings is used to form the  [[diagnosis]], [[MRI]] can assess the involvement and extent of [[lesions]]. Treatment is mainly conservative with [[surgery]] being used in some cases to excise and/or correct [[malformations]].<ref name="pmid18454870"></ref><ref name="pmid6284617">{{cite journal |vauthors=Langer M, Langer R |title=[Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type (author's transl)] |language=German |journal=Rofo |volume=136 |issue=5 |pages=577–82 |date=May 1982 |pmid=6284617 |doi=10.1055/s-2008-1056105 |url=}}</ref>
===Sturge-Weber syndrome===
* [[Congenital]] [[syndrome]] characterized by [[capillary malformations]] involving [[face]] and laptomeninges and [[eye]] abnormalities. There may also be bone and/or overgrowth.
* Clinical manifestations may include [[seizures]], [[port-wine stain]] on the forehead and upper [[eyelid]] of one side of the [[face]],  [[muscle]] weakness, [[developmental delays]] and [[mental retardation]], [[glaucoma]], and [[buphthalmos]].
* Associated with [[mutations]] in GNAQ [[gene]] that encodes for members of [[G protein]] family.
* To learn more about Sturge-Weber syndrome, click here.
===Maffucci syndrome===
* A rare [[disorder]] characterized by presence of [[venous malformations]] associated with multiple [[enchondromas]], benign [[cartilage]]-forming [[tumors]], and multiple [[soft tissue]] [[hemangiomas]] and [[lymphangiomas]]. These benign [[tumors]] have tendency to undergo [[malignant]] [[transformation]] in [[maffuci syndrome]]. People with [[maffuci syndrome]] are also at increased risk of developing other [[malignant]] [[tumors]] such as [[glioma]], [[glioblastoma]], [[acute myeloid leukemia]], intrahepatic [[cholangiocarcinomas]], [[hepatocellular carcinoma]], [[pancreatic]], and [[breast]] [[malignancies]]. Clinical manifestations depend on the coexisting [[lesions]].<ref name="pmid25777744">{{cite journal |vauthors=McCarthy CM, Blecher H, Reich S |title=A case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment |journal=Spine J |volume=15 |issue=6 |pages=e15–9 |date=June 2015 |pmid=25777744 |doi=10.1016/j.spinee.2015.03.006 |url=}}</ref><ref name="pmid26628708">{{cite journal |vauthors=Tsao YP, Tsai CY, Chen WS |title=Maffucci Syndrome |journal=J. Rheumatol. |volume=42 |issue=12 |pages=2434–5 |date=December 2015 |pmid=26628708 |doi=10.3899/jrheum.150216 |url=}}</ref><ref name="pmid26920730">{{cite journal |vauthors=Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H |title=Maffucci syndrome and neoplasms: a case report and review of the literature |journal=BMC Res Notes |volume=9 |issue= |pages=126 |date=February 2016 |pmid=26920730 |pmc=4769492 |doi=10.1186/s13104-016-1913-x |url=}}</ref>
* [[Mutations]] in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2), [[enzymes]] involved in metabolism of isocitrate and α-ketoglutarate, and [[TP53]], a [[cell-cycle]] regulator, have been found in [[tumors]] in [[maffuci syndrome]].<ref name="pmid24344754">{{cite journal |vauthors=Moriya K, Kaneko MK, Liu X, Hosaka M, Fujishima F, Sakuma J, Ogasawara S, Watanabe M, Sasahara Y, Kure S, Kato Y |title=IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome |journal=Cancer Sci. |volume=105 |issue=3 |pages=359–62 |date=March 2014 |pmid=24344754 |pmc=4317937 |doi=10.1111/cas.12337 |url=}}</ref><ref name="pmid22057234">{{cite journal |vauthors=Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV |title=Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |journal=Nat. Genet. |volume=43 |issue=12 |pages=1256–61 |date=November 2011 |pmid=22057234 |pmc=3427908 |doi=10.1038/ng.1004 |url=}}</ref>
* [[Patients]] should be evaluated to check for [[malignant]] [[transformation]]. Some recommend [[CT scans]] and [[PET scans]] at regular intervals.<ref name="pmid26920730" /><ref name="pmid26628708"></ref><ref name="pmid25537758">{{cite journal |vauthors=Al-Katib S, Al-Faham Z, Grant P, Palka JC |title=The Appearance of Maffucci Syndrome on 18F-FDG PET/CT |journal=J Nucl Med Technol |volume=43 |issue=2 |pages=131–2 |date=June 2015 |pmid=25537758 |doi=10.2967/jnmt.114.146480 |url=}}</ref><ref name="pmid26920730"></ref>
* To learn more about maffuci syndrome, click here.
===CLOVES syndrome===
* CLOVES is an acronym for [[congenital]] lipomatous overgrowth, [[vascular malformations]], [[epidermal nevi]], skeletal and spinal anomalies. [[Vascular malformations]] in this [[syndrome]] include [[venous]], [[capillary]] and [[lymphatic]] [[malformations]] with or without combined [[arteriovenous malformations]]. [[Pulmonary thromboembolism]] and [[respiratory]] failure are the cause of [[mortality]] in majority of the [[patients]]. Lipomatous and vascular abnormalities are often segmental and [[asymmetric]] in distribution and present typically on [[chest]] and [[abdominal wall]].<ref name="pmid25044986">{{cite journal |vauthors=Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB |title=Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes |journal=Am. J. Med. Genet. A |volume=164A |issue=10 |pages=2633–7 |date=October 2014 |pmid=25044986 |pmc=4496426 |doi=10.1002/ajmg.a.36672 |url=}}</ref><ref name="pmid25400966">{{cite journal |vauthors=Sarici D, Akin MA, Kurtoglu S, Tubas F, Sarici SU |title=A Neonate with CLOVES Syndrome |journal=Case Rep Pediatr |volume=2014 |issue= |pages=845074 |date=2014 |pmid=25400966 |pmc=4221976 |doi=10.1155/2014/845074 |url=}}</ref><ref name="pmid20537357">{{cite journal |vauthors=Alomari AI, Burrows PE, Lee EY, Hedequist DJ, Mulliken JB, Fishman SJ |title=CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism |journal=J. Thorac. Cardiovasc. Surg. |volume=140 |issue=2 |pages=459–63 |date=August 2010 |pmid=20537357 |doi=10.1016/j.jtcvs.2010.04.023 |url=}}</ref><ref name="pmid25709171">{{cite journal |vauthors=Gopal B, Keshava SN, Selvaraj D |title=A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome |journal=Indian J Radiol Imaging |volume=25 |issue=1 |pages=71–3 |date=2015 |pmid=25709171 |pmc=4329693 |doi=10.4103/0971-3026.150166 |url=}}</ref>
* Clinical and [[imaging]] findings may include swellings due to lipomatous growths, [[skin]] discoloration, [[port wine stain]], bilateral [[epidermal nevi]],leg length discrepancy, developmental limb anomalies such as increased gap between the first and second toes, [[hemorrhage]], [[seizures]], [[ascites]], [[pleural]] effusions, [[hypotension]], bilateral multicystic [[venous]] and [[lymphatic]] [[malformations]], [[chest]] wall [[venous]] dilatation, multiple [[congenital]] [[hemangiomas]], asymmetric [[septal hypertrophy]], [[renal]] hypoplasia, dislocated [[knees]], [[scoliosis]], and [[neural tube defect]].<ref name="pmid25044986"></ref><ref name="pmid25709171"></ref><ref name="pmid20537357"></ref>
* Activating mutations in PICK3CA [[gene]] that encodes part of PI3K has been thought to be associated with this [[syndrome]]. These mutations may help enable the cells to grow independent of [[growth factors]].<ref name="pmid25044986"></ref><ref name="pmid25400966"></ref><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 |date=June 2012 |pmid=22658544 |pmc=3370283 |doi=10.1016/j.ajhg.2012.05.006 |url=}}</ref>
* This [[syndrome]] can be detected prenatally and its manifestations have been identified on prenatal [[ultrasound]] and fetal [[MRI]]. Treatment options include supportive management, [[surgical debulking]] and [[scletherapy]] but treatment is often complicated by severity of the disease resulting in [[anemia]], [[coagulopathy]] and poor wound healing.<ref name="pmid25044986"></ref><ref name="pmid25400966"></ref>
===Proteus syndrome===
* [[Congenital]] [[syndrome]] characterized by asymmetric overgrowth of multiple [[tissues]] in [[limbs]], [[hamartomas]] and [[vascular]] [[lesions]] such as [[capillary malformations]], [[venous malformations]], [[lymphatic malformations]]. [[Cerebriform connective tissue nevi]], a [[pathognomonic]] [[lesion]] if present alone, are helpful in diagnosing [[Proteus syndrome]]. It may affect multiple [[organs]] such as [[eyes]], [[spleen]], [[liver]], [[thymus]], [[intestine]], and [[lungs]], and may cause [[facial dysmorphia]]. Some [[benign]] and [[malignant]] [[neoplasms]] such as [[testicular papillary adenocarcinoma]] and [[mesothelioma]].<ref name="pmid29166516">{{cite journal |vauthors=Rocha RCC, Estrella MPS, Amaral DMD, Barbosa AM, Abreu MAMM |title=Proteus syndrome |journal=An Bras Dermatol |volume=92 |issue=5 |pages=717–720 |date=2017 |pmid=29166516 |pmc=5674710 |doi=10.1590/abd1806-4841.20174496 |url=}}</ref><ref name="pmid28377973">{{cite journal |vauthors=El-Sobky TA, Elsayed SM, El Mikkawy DM |title=Orthopaedic manifestations of Proteus syndrome in a child with literature update |journal=Bone Rep |volume=3 |issue= |pages=104–108 |date=December 2015 |pmid=28377973 |pmc=5365241 |doi=10.1016/j.bonr.2015.09.004 |url=}}</ref><ref name="pmid25377688">{{cite journal |vauthors=Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM |title=Myocardial fat overgrowth in Proteus syndrome |journal=Am. J. Med. Genet. A |volume=167A |issue=1 |pages=103–10 |date=January 2015 |pmid=25377688 |pmc=4275354 |doi=10.1002/ajmg.a.36773 |url=}}</ref>
* Clinical manifestations and findings may include [[hemihypertrophy]], asymmetry of the limbs, [[scoliosis]], [[subcutaneous]] [[tumors]], [[soft tissues]] [[tumors]] such as [[lipoma]], limb abnormalities such as macrodactyly, hyperpigmented [[lesions]] on [[skin]], [[verrucous epidermal nevi]], [[lung]] diseases, [[pulmonary embolism]], [[venous thrombosis]],  [[glaucoma]], [[strabismus]], [[nystagmus]], [[pseudopapileudema]], [[cardiac defects]] such as ARVC, healed [[myocardial infarctions]], [[cardiomyopathies]], [[cardiac lipomas]], and [[central nervous system]] findings. These findings may be detected [[prenatally]] or at [[birth]] but majority of the [[patients]] present after 6 months of [[birth]].<ref name="pmid29166516"></ref><ref name="pmid28377973"></ref><ref name="pmid25377688"></ref><ref name="pmid24882963">{{cite journal |vauthors=Sarman ZS, Yuksel N, Sarman H, Bayramgurler D |title=Proteus syndrome: report of a case with developmental glaucoma |journal=Korean J Ophthalmol |volume=28 |issue=3 |pages=272–4 |date=June 2014 |pmid=24882963 |pmc=4038735 |doi=10.3341/kjo.2014.28.3.272 |url=}}</ref>
* Somatic mutations in AKT1 [[gene]] that encodes [[proteins]] functioning in AKT/PI3K signaling pathway has been proposed to be the cause of this [[syndrome]]. This pathway functions in cell growth, differentiation and survival.<ref name="pmid25377688" /><ref name="pmid26657992">{{cite journal |vauthors=Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG |title=Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome |journal=Sci Rep |volume=5 |issue= |pages=17162 |date=December 2015 |pmid=26657992 |pmc=4675973 |doi=10.1038/srep17162 |url=}}</ref>
* [[Diagnosis]] is based on clinical and [[radiological]] findings and must meet general and specific criteria. Management consists of clinical and psychological assistance. This may include [[orthopedic]] consultation to stop or delay bone growth, [[physical rehabilitation]], [[surgical correction]] of deformities such as [[scoliosis]], [[dermatology]] consultation fro skin [[lesions]], workup and followup for [[vein thrombosis]] and [[pulmonary embolism]], [[intervention]] for [[developmental delay]], and evaluation for associated [[neoplasms]] at regular intervals.<ref name="pmid29166516"></ref><ref name="pmid22876373">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Biesecker LG, Sapp JC |title= |journal= |volume= |issue= |pages= |date= |pmid=22876373 |doi= |url=}}</ref>
* To learn more, click here.
===Bannayan-Riley-Ruvalcaba syndrome===
* An overgrowth [[syndrome]] characterized by [[vascular malformations]], macrocephaly, multiple [[benign]] [[neoplasm]] and [[pigmented]] [[lesions]] on the [[skin]]. Speckled [[pigmented]] macules on [[genitalia]] are one of the most significant [[diagnostic]] characteristics. People with this [[syndrome]] may have increased risk of developing [[neoplasms]] in many [[organs]] such as [[thyroid]], [[breasts]], and [[female genital tract]] although it has not been confirmed.<ref name="pmid24474112">{{cite journal |vauthors=Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S, Alves CA |title=Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report |journal=An Bras Dermatol |volume=88 |issue=6 |pages=982–5 |date=2013 |pmid=24474112 |pmc=3900354 |doi=10.1590/abd1806-4841.20132730 |url=}}</ref><ref name="pmid24379037">{{cite journal |vauthors=Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A |title=Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome |journal=J Clin Res Pediatr Endocrinol |volume=5 |issue=4 |pages=261–5 |date=2013 |pmid=24379037 |pmc=3890226 |doi=10.4274/Jcrpe.984 |url=}}</ref><ref name="pmid26157835">{{cite journal |vauthors=Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ |title=Bannayan Ruvalcaba Riley Syndrome |journal=ACG Case Rep J |volume=1 |issue=2 |pages=90–2 |date=January 2014 |pmid=26157835 |pmc=4435287 |doi=10.14309/crj.2014.11 |url=}}</ref>
* Typical manifestations and findings may include  multiple [[lipomas]], [[hemangiomas]], [[intestinal hamartomatous polyposis]], [[vascular malformations]] such as [[arteriovenous malformations]] and [[capillary malformations]], [[developmental delay]], macrocephaly (>97 percentile), [[penile]] [[pigmented]] macules, thyroid abnormalities such as [[multinodular goiter]], [[thyroid]] [[adenoma]], differentiated [[non-medullary thyroid cancer]] and [[Hashimoto’s thyroiditis]], high-arched palate, protuberant frontal bone, [[hypertelorism]], [[strabismus]], [[macrosomia]], [[hypotonia]], joint hyperextensibility, [[hypoglycemia]], [[convulsions]], [[café-au-lait spots]], prominent forehead, malar hypoplasia and  [[micrognathia]].<ref name="pmid24474112"></ref><ref name="pmid24379037"></ref><ref name="pmid26157835"></ref>
* [[Mutations]] in PTEN [[gene]] have been thought to be the cause. This [[gene]] encodes an [[enzyme]] that acts as [[tumor]] suppressor by stopping [[cell division]] and inducing [[apoptosis]]. Both autosomal-dominant transmission and sporadic occurrence have been reported.<ref name="pmid24474112"></ref>
* [[Diagnosis]] is based on clinical findings, the most important of these findings being [[penile pigmented maculae]], [[hamartomatous intestinal polyposis]] and macrocephaly. Management consists of psycho-social counseling and treatment of manifestations such as [[surgical]] and [[dermatological]] interventions, [[spinal stimulation]] for intractable gastrointestinal pain and screening for [[[malignancies]] associated with PTEN mutations such as annual [[thyroid]] [[ultrasound]] and [[mammography]].<ref name="pmid24474112"></ref><ref name="pmid26157835"></ref>
* To learn more, click here.
===CLAPO syndrome===
* CLAPO [[syndrome]], a [[syndrome]] that has been diagnosed in 6 patients) is acronym for [[capillary malformation]] of the lower lip, [[lymphatic malformations]] of the [[face]] and [[neck]], asymmetry, and partial or generalized overgrowth. Manifestations may include [[cutaneous]] [[lesions]] on [[head and neck]] and asymmetrical overgrowth.<ref name="pmid29766551">{{cite journal |vauthors=Downey C, López-Gutiérrez JC, Roé-Crespo E, Puig L, Baselga E |title=Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome |journal=Pediatr Dermatol |volume=35 |issue=4 |pages=e243–e244 |date=July 2018 |pmid=29766551 |doi=10.1111/pde.13514 |url=}}</ref><ref name="pmid29446767">{{cite journal |vauthors=Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V |title=CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype |journal=Genet. Med. |volume=20 |issue=8 |pages=882–889 |date=August 2018 |pmid=29446767 |doi=10.1038/gim.2017.200 |url=}}</ref>
* Somatic activating  PIK3CA [[mutations]] have been found in [[patients]] with CLAPO [[syndrome]]. This [[gene]] encodes [[proteins]] that function in [[cell-signaling]] pathways.<ref name="pmid29766551"></ref><ref name="pmid29446767"></ref>
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 17:46, 10 October 2018

Vascular Anomalies

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Overview

Classification

Vascular Tumors
Vascular Malformations
Provisionally Unclassified Vascular Anomalies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Vascular anomalies constitute a wide array of disorders ranging from benign lesions such as infantile hemangioma to aggressive malignant tumors such as angiosarcoma. Commonly used misnomers and confusing nomenclature has often presented difficulties for accurate diagnosis and appropriate management. International Society for the Study of Vascular Anomalies (ISSVA) has now classified vascular anomalies into vascular tumors and vascular malformations with an unclassified category for lesions that show clinical and histological characteristics unique from disorders classified in vascular tumors and vascular malformations.

Classification

Vascular Anomalies
Vascular Tumors Vascular Malformations
Simple vascular malformation Combined vascular malformation* Vascular malformation of major named vessels Vascular malformation associated with other anomalies
  • Benign
  • Locally aggressive or
  • Borderline
  • Malignant
  • Capillary malformations
  • Lymphatic malformations
  • Venous malformations
  • Arteriovenous malformations**
  • Arteriovenous fistula**
  • Capillary venous malformation
  • Capillary lymphatic malformation
  • Lymphatic venous malformation
  • Capillary lymphatic venous malformation
  • Capillary arteriovenous malformation
  • Capillary lymphatic arteriovenous malformation
  • Others

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* Defined as two or more vascular malformations found in one lesion
** High flow lesions

Classification of Vascular Tumors

 
 
 
 
 
 
 
 
 
 
 
 
 
 
Vascular tumors
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Benign
 
 
 
 
 
Locally aggressive or borderline
 
 
 
 
 
Malignant
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Infantile hemangioma / Hemangioma of infancy
 
 
 
 
 
 
Kaposiform hemangioendothelioma*
 
 
 
 
 
 
Angiosarcoma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Congenital hemangioma*
 
 
 
 
 
 
Retiform hemangioendothelioma
 
 
 
 
 
 
Epithelioid hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Tufted angioma*
 
 
 
 
 
 
Papillary intralymphatic angioendothelioma (PILA), Dabska tumor
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Spindle-cell hemangioma
 
 
 
 
 
 
Composite hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Epithelioid hemangioma
 
 
 
 
 
 
Pseudomyogenic hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Pyogenic granuloma (also known as lobular capillary hemangioma)
 
 
 
 
 
 
Polymorphous hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
• Microvenular hemangioma
• Anastomosing hemangioma
• Glomeruloid hemangioma
• Papillary hemangioma
• Intravascular papillary endothelial hyperplasia
• Cutaneous epithelioid angiomatous nodule
• Acquired elastotic hemangioma
• Littoral cell hemangioma of the spleen
 
 
 
 
 
 
Hemangioendothelioma not otherwise specified
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
'
Related lesions
• Eccrine angiomatous hamartoma
• Reactive angioendotheliomatosis
• Bacillary angiomatosis
 
 
 
 
 
 
Kaposi sarcoma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 


*congenital hemangioma (rapidly involuting type) and tufted angioma may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider tufted angioma and kaposiform hemangioendothelioma to be part of a spectrum rather than distinct entities

Classification of Vascular Malformations

 
 
 
 
 
 
Vascular malformations
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Simple vascular malformations
 
Combined vascular malformations
 
Vascular malformations of major named vessels
 
Vascular malformations asscoiated with other anomalies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
*
CM + VMCapillary-venous malformationCVM
CM + LMCapillary-lymphatic malformationCLM
CM + AVMCapillary-arteriovenous malformationCAVM
LM + VMLymphatic-venous malformationLVM
CM + LM + VMCapillary-lymphatic-venous malformationCLVM
CM + LM + AVMCapillary-lymphatic-arteriovenous malformationCLVM
CM + VM + AVMCapillary-venous-arteriovenous malformationCVAVM
CM + LM + VM + AVMCapillary-lymphatic-venous-arteriovenous malformationCLVAVM
 

(also known as "channel type" or "truncal" vascular malformations)
Affect
• Lymphatics
• Veins
• Arteries
Anomalies of
• Origin
• Course
• Number
• Diameter (aplasia,
hypoplasia, stenosis,
ectasia / aneurysm)
• Valves
• Communication (AVF)
• Persistence (of
embryonal vessel)
 
Klippel-Trenaunay syndromeCM + VM +/-LM + limb overgrowth
Parke's Weber syndromeCM + AVF + limb overgrowth
Servelle-Martorell syndromeLimb VM + bone undergrowth
Sturge-Weber syndromeFacial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth
Maffucci syndromeVM +/-spindle-cell hemangioma + enchondroma
CLOVES syndromeLM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndromeCM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba sdlower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
Limb CM + congenital non-progressive limb overgrowth
Macrocephaly-CM (M-CM / MCAP)
Microcephaly-CM (MICCAP)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Capillary malformations (CM)
 
Lymphatic malformations (LM)
 
Venous malformations (VM)
 
Arteriovenous
malformation(AVM)
 
Arteriovenous fistula
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Nevus simplex / salmon patch, “angel kiss”, “stork bite”
 
 
Common (cystic) LM
• Macrocystic LM
• Microcystic LM
• Mixed cystic LM
 
 
Common VM
 
 
Sporadic
 
 
Sporadic
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cutaneous and/or mucosal CM (also known as “port-wine” stain)
• Nonsyndromic CM
• CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
• CM with bone and/or soft tissues overgrowth
• Diffuse CM with overgrowth (DCMO)
 
 
Generalized lymphatic anomaly (GLA)
Kaposiform lymphangiomatosis (KLA)
 
 
Familial VM cutaneo-mucosal (VMCM)
 
 
In HHT
 
 
In HHT
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Reticulate CM
• CM of MIC-CAP (microcephaly-capillary malformation)
• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
 
 
LM in Gorham-Stout disease
 
 
Blue rubber bleb nevus (Bean) syndrome VM
 
 
In CM-AVM
 
 
In CM-AVM
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CM of CM-AVM
 
 
Channel type LM
 
 
Glomuvenous malformation (GVM)
 
 
Others
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cutis marmorata telangiectatica congenita (CMTC)
 
 
“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")
 
 
Cerebral cavernous malformation (CCM)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
Primary lymphedema
 
 
Familial intraosseous vascular malformation (VMOS)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Telangiectasia
• Hereditary hemorrhagic telangiectasia (HHT)
• Others
 
 
Others
 
 
Verrucous venous malformation (formerly verrucous hemangioma)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
Combined vascular malformations*
CM + VM capillary-venous malformation CVM
CM + LM capillary-lymphatic malformation CLM
CM + AVM capillary-arteriovenous malformation CAVM
LM + VM lymphatic-venous malformation LVM
CM + LM + VM capillary-lymphatic-venous malformation CLVM
CM + LM + AVM capillary-lymphatic-arteriovenous malformation CLAVM
CM + VM + AVM capillary-venous-arteriovenous malformation CVAVM
CM + LM + VM + AVM capillary-lymphatic-venous-arteriovenous m. CLVAVM
Anomalies of major named vessels

(also known as "channel type" or "truncal" vascular malformations)

Affect
  • lymphatics
  • veins
  • arteries

Anomalies of

  • origin
  • course
  • number
  • length
  • diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm)
  • valves
  • communication (AVF)
  • persistence (of embryonal vessel)
Provisionally unclassified vascular anomalies
Intramuscular hemangioma *
Angiokeratoma
Sinusoidal hemangioma
Acral arteriovenous "tumour"
Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral

angiomatosis with thrombocytopenia (MLT/CAT)

PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue

(PHOST)

Fibro adipose vascular anomaly (FAVA) 
* Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM. Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.
Vascular malformations associated with other anomalies
Klippel-Trenaunay syndrome* CM + VM +/-LM + limb overgrowth
Parkes Weber syndrome CM + AVF + limb overgrowth
Servelle-Martorell syndrome limb VM + bone undergrowth
Sturge-Weber syndrome facial + leptomeningeal CM + eye anomalies

+/-bone and/or soft tissue overgrowth

Limb CM + congenital non-progressive limb overgrowth
Maffucci syndrome VM +/-spindle-cell hemangioma + enchondroma
Macrocephaly-CM (M-CM / MCAP)*
Microcephaly-CM (MICCAP)
CLOVES syndrome* LM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndrome CM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba sd lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
Causal genes of vascular anomalies
ACVRL1 Telangiectasia, AVM and AVF of HHT2
AKT1 Proteus syndrome
BRAF Pyogenic granuloma PG
CAMTA1 Epithelioid hemangioendothelioma EHE
CCBE1 Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome)
ELMO2 Familial intraosseous vascular malformation VMOS
ENG Telangiectasia, AVM and AVF of HHT1
EPHB4 CM-AVM2
FLT4 Nonne-Milroy syndrome (gene also named VEGFR3)
FOS Epithelioid hemangioma EH
FOSB Pseudomyogenic hemangioendothelioma
FOXC2 Lymphedema-distichiasis
GATA2 Primary lymphedema with myelodysplasia
GJC2 Primary hereditary lymphedema
Glomulin Glomuvenous malformation
GNA11 Congenital hemangioma CH

CM with bone and/or soft tissue hyperplasia

Diffuse CM with overgrowth DCMO

GNA14 Tufted angioma TA

Pyogenic granuloma PG

Kaposiform hemangioendothelioma KHE

GNAQ Congenital hemangioma CH

CM "Port-wine" stain, nonsyndromic CM

CM of Sturge-Weber syndrome

IDH1 Maffucci syndrome

Spindle-cell hemangioma

IDH2 Maffucci syndrome

Spindle-cell hemangioma

KIF11 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
KRIT1 Cerebral cavernous malformation CCM1
Malcavernin Cerebral cavernous malformation CCM2
MAP2K1 Arteriovenous malformation AVM (sporadic)
MAP2K1 Ateriovenous fistula AVF (sporadic)
MAP3K3 Verrucous venous malformation (somatic)
MYC Post radiation angiosarcoma
NPM11 Maffucci syndrome
PDCD10 Cerebral cavernous malformation CCM3
PIK3CA Common (cystic) LM (somatic)*

Common VM (somatic)*

Klippel-Trenaunay syndrome*

Megalencephaly-capillary malformation-polymicrogyria (MCAP)*

CLOVES syndrome*

CLAPO syndrome*

Fibro adipose vascular anomaly FAVA

PTEN Bannayan-Riley-Ruvalcaba syndrome

PTEN (type) Hamartoma of soft tissue / "angiomatosis" of soft tissue

PTPN14 Lymphedema-choanal atresia
RASA1 CM-AVM1

Parkes Weber syndrome

SMAD4 Telangiectasia, AVM and AVF of Juvenile polyposis hemorrhagic telangiectasia JPHT
SOX18 Hypotrichosis-lymphedema-telangiectasia
STAMBP Microcephaly-CM (MIC-CAP)
TEK (TIE2) Common VM (somatic)

Familial VM cutaneo-mucosal VMCM

Blue rubber bleb nevus (Bean) syndrome (somatic)

TFE3 Epithelioid hemangioendothelioma EHE
VEGFC Primary hereditary lymphedema
VEGFR3 Nonne-Milroy syndrome (gene also named FLT4) 
*Some of these lesions, associated with overgrowth, belong to the PIK3CA related overgrowth spectrum PROS

Provisionally unclassified vascular anomalies

Intramuscular hemangioma

Angiokeratoma

  • A muco-cutaneous vascular lesion with wart-like papular appearance characterized by dilated capillaries in the dermis and hyperkeratotis of the overlying epidermis. Clinically it may manifest as solitary or multiple hyperkeratotic papules that may be localized or generalized, most typically on scrotum, thighs, lower extremity, abdomen, trunk, tongue, penis and labia majora. Majority of the lesions are asymptomatic but some may ulcerate and/or bleed.[8][9][10]
  • It may be classified into following entities:[10]
    • Fordyce’s angiokeratoma (arising on the genitals)
    • Mibelli’s angiokeratoma (dorsum of toes and fingers)
    • Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques)
    • Angiokeratoma corporis diffusum (ACD) (generalized lesions between umbilicus and the knee)
  • Angiokeratomas are more prevalent among males as compared to females. Increased venous pressure and radiation therapy have been cited as possible causes. Angiokeratomas have been associated with enzyme deficiencies such as alpha-galactosidase A (Fabry disease), α-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartyl glycosaminase (aspartyl glucosaminuria), β-mannosidase (β- mannosidosis), α-N-acetyl galactosaminidase (Kansaki disease), and β-galactosidase (adult onset GM1 gangliosidosis).[10][8][9][11][12]
  • The diagnosis is mainly clinical but biopsy may be required. Associated enzyme deficiencies and systemic disorders must be ruled out. Treatment is generally not indicated but if so required then excision, electrocautery, cryotherapy, or laser ablations are the options.[8][12][10][13][11]

Sinusoidal hemangioma

Acral arteriovenous "tumour"

Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)

Fibro adipose vascular anomaly (FAVA)

Vascular malformations associated with other anomalies

Klippel-Trenaunay syndrome

Parkes Weber syndrome

Servelle-Martorell syndrome

Sturge-Weber syndrome

Maffucci syndrome

CLOVES syndrome

Proteus syndrome

Bannayan-Riley-Ruvalcaba syndrome

CLAPO syndrome

References

  1. ↑ 1.0 1.1 Wang CS, Wu PK, Chiou HJ, Chen CF, Chen WM, Liu CL, Chen TH (August 2014). "Nonpalpable intramuscular hemangioma treated with hookwire localization and excision". J Chin Med Assoc. 77 (8): 426–9. doi:10.1016/j.jcma.2014.02.017. PMID 25028288.
  2. ↑ 2.0 2.1 Doddanna SJ, Dawar G, Rallan NS, Agarwal M (2014). "Intramuscular cavernous hemangioma: a rare entity in the buccinator muscle". Indian J Dent Res. 25 (6): 813–5. doi:10.4103/0970-9290.152211. PMID 25728120.
  3. ↑ 3.0 3.1 Righini CA, Berta E, Atallah I (February 2014). "Intramuscular cavernous hemangioma arising from the masseter muscle". Eur Ann Otorhinolaryngol Head Neck Dis. 131 (1): 57–9. doi:10.1016/j.anorl.2013.03.003. PMID 23845293.
  4. ↑ 4.0 4.1 Alami B, Lamrani Y, Addou O, Boubbou M, Kamaoui I, Maaroufi M, Sqalli N, Tizniti S (January 2015). "Presumptive intramuscular hemangioma of the masseter muscle". Am J Case Rep. 16: 16–9. doi:10.12659/AJCR.890776. PMC 4298281. PMID 25590509.
  5. ↑ 5.0 5.1 5.2 Brown RA, Crichton K, Malouf GM (June 2004). "Intramuscular haemangioma of the thigh in a basketball player". Br J Sports Med. 38 (3): 346–8. PMC 1724833. PMID 15155443.
  6. ↑ 6.0 6.1 Patnaik S, Kumar P, Nayak B, Mohapatra N (2016). "Intramuscular Arteriovenous Hemangioma of Thigh: A Case Report and Review of Literature". J Orthop Case Rep. 6 (5): 20–23. doi:10.13107/jocr.2250-0685.612. PMC 5404154. PMID 28507959.
  7. ↑ 7.0 7.1 Wierzbicki JM, Henderson JH, Scarborough MT, Bush CH, Reith JD, Clugston JR (September 2013). "Intramuscular hemangiomas". Sports Health. 5 (5): 448–54. doi:10.1177/1941738112470910. PMC 3752185. PMID 24427416.
  8. ↑ 8.0 8.1 8.2 Hussein RS, Kfoury H, Al-Faky YH (2014). "Eyelid angiokeratoma". Middle East Afr J Ophthalmol. 21 (3): 287–8. doi:10.4103/0974-9233.134702. PMC 4123288. PMID 25100920.
  9. ↑ 9.0 9.1 Trickett R, Dowd H (October 2006). "Angiokeratoma of the scrotum: a case of scrotal bleeding". Emerg Med J. 23 (10): e57. doi:10.1136/emj.2006.038745. PMC 2579622. PMID 16988295.
  10. ↑ 10.0 10.1 10.2 10.3 Chowdappa V, Narasimha A, Bhat A, Masamatti SS (May 2015). "Solitary Angiokeratoma: Report of Two Uncommon Cases". J Clin Diagn Res. 9 (5): WD01–2. doi:10.7860/JCDR/2015/12163.5946. PMC 4484136. PMID 26155544.
  11. ↑ 11.0 11.1 Ghosh SK, Ghosh S, Agarwal M (2015). "Multiple giant angiokeratoma of Fordyce on the shaft of the penis masquerading as keratoacanthoma". An Bras Dermatol. 90 (3 Suppl 1): 150–2. doi:10.1590/abd1806-4841.20153876. PMC 4540534. PMID 26312700.
  12. ↑ 12.0 12.1 Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S (May 2009). "Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer". ScientificWorldJournal. 9: 339–42. doi:10.1100/tsw.2009.23. PMC 5823195. PMID 19468654.
  13. ↑ Vijay MK, Arava S (2014). "Solitary angiokeratoma of tongue: a rare entity clinically mistaken as a malignant tumor". Indian J Pathol Microbiol. 57 (3): 510–1. doi:10.4103/0377-4929.138810. PMID 25118768.
  14. ↑ Halawar SS, Venugopal R, Varsha B, Kavya B (May 2013). "Intramuscular sinusoidal hemangioma with Masson's lesion". J Oral Maxillofac Pathol. 17 (2): 315–7. doi:10.4103/0973-029X.119762. PMC 3830250. PMID 24250102.
  15. ↑ 15.0 15.1 15.2 Ciurea M, Ciurea R, Popa D, Pârvănescu H, Marinescu D, Vrabete M (2011). "Sinusoidal hemangioma of the arm: case report and review of literature". Rom J Morphol Embryol. 52 (3): 915–8. PMID 21892538.
  16. ↑ Konda P, Bavle RM, Makarla S, Muniswamappa S (January 2016). "Intramuscular sinusoidal haemangioma with secondary Masson's phenomenon". BMJ Case Rep. 2016. doi:10.1136/bcr-2013-201457. PMC 4716435. PMID 26729822.
  17. ↑ 17.0 17.1 Gupta R, Kayal A (2014). "Scalp arteriovenous malformations in young". J Pediatr Neurosci. 9 (3): 263–6. doi:10.4103/1817-1745.147587. PMC 4302550. PMID 25624933.
  18. ↑ 18.0 18.1 Özkara E, Özbek Z, Özdemir AÖ, Arslantaş A (2018). "Misdiagnosed Case of Scalp Arteriovenous Malformation". Asian J Neurosurg. 13 (1): 59–61. doi:10.4103/1793-5482.181137. PMC 5820896. PMID 29492122.
  19. ↑ 19.0 19.1 19.2 Droitcourt C, Boccara O, Fraitag S, Favrais G, Dupuy A, Maruani A (August 2015). "Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus". Pediatrics. 136 (2): e517–22. doi:10.1542/peds.2014-2410. PMID 26148948.
  20. ↑ 20.0 20.1 20.2 Zegpi MS, Zavala A, del Puerto C, Cárdenas C, González S (2012). "Newborn with multifocal lymphangioendotheliomatosis with thrombocytopenia". Indian J Dermatol Venereol Leprol. 78 (3): 409. doi:10.4103/0378-6323.95494. PMID 22565464.
  21. ↑ Kline RM, Buck LM (April 2009). "Bevacizumab treatment in multifocal lymphangioendotheliomatosis with thrombocytopenia". Pediatr Blood Cancer. 52 (4): 534–6. doi:10.1002/pbc.21860. PMID 19101995.
  22. ↑ Lanöel A, Torres Huamani AN, Feliú A, Sala MJ, Alvarez M, Cervini AB (July 2016). "Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus". Pediatr Dermatol. 33 (4): e235–9. doi:10.1111/pde.12879. PMID 27282436.
  23. ↑ 23.0 23.1 Fernandez-Pineda I, Marcilla D, Downey-Carmona FJ, Roldan S, Ortega-Laureano L, Bernabeu-Wittel J (2014). "Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder". Ann Vasc Dis. 7 (3): 316–9. doi:10.3400/avd.cr.14-00049. PMC 4180696. PMID 25298836.
  24. ↑ 24.0 24.1 Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP (January 2014). "Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity". J Pediatr Orthop. 34 (1): 109–17. doi:10.1097/BPO.0b013e3182a1f0b8. PMID 24322574.
  25. ↑ "www.issva.org" (PDF).
  26. ↑ 26.0 26.1 Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM (2015). "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?". Biomed Res Int. 2015: 786519. doi:10.1155/2015/786519. PMC 4588354. PMID 26451379.
  27. ↑ Withana M, Rodrigo C, Shivanthan MC, Warnakulasooriya S, Wimalachandra M, Gooneratne L, Rajapakse S (November 2014). "Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report". J Med Case Rep. 8: 390. doi:10.1186/1752-1947-8-390. PMC 4289367. PMID 25427442.
  28. ↑ 28.0 28.1 28.2 Ricks CB, Grandhi R, Ducruet AF (October 2014). "Klippel-Trenaunay syndrome and cavernous malformations". BMJ Case Rep. 2014. doi:10.1136/bcr-2014-207486. PMC 4187537. PMID 25293688.
  29. ↑ 29.0 29.1 29.2 29.3 29.4 Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T (February 2017). "A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs". J Surg Case Rep. 2017 (2): rjx024. doi:10.1093/jscr/rjx024. PMC 5400491. PMID 28458832.
  30. ↑ 30.0 30.1 Tetangco EP, Arshad HM, Silva R (August 2016). "Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia". ACG Case Rep J. 3 (4): e161. doi:10.14309/crj.2016.134. PMC 5126491. PMID 27921060.
  31. ↑ 31.0 31.1 31.2 Chagas C, Pires L, Babinski MA, Leite T (2017). "Klippel-Trenaunay and Parkes-Weber syndromes: two case reports". J Vasc Bras. 16 (4): 320–324. doi:10.1590/1677-5449.005417. PMC 5944310. PMID 29930667. Vancouver style error: initials (help)
  32. ↑ 32.0 32.1 32.2 Karuppal R, Raman RV, Valsalan BP, Gopakumar T, Kumaran CM, Vasu CK (May 2008). "Servelle-Martorell syndrome with extensive upper limb involvement: a case report". J Med Case Rep. 2: 142. doi:10.1186/1752-1947-2-142. PMC 2394530. PMID 18454870. Vancouver style error: initials (help)
  33. ↑ Langer M, Langer R (May 1982). "[Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type (author's transl)]". Rofo (in German). 136 (5): 577–82. doi:10.1055/s-2008-1056105. PMID 6284617.
  34. ↑ McCarthy CM, Blecher H, Reich S (June 2015). "A case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment". Spine J. 15 (6): e15–9. doi:10.1016/j.spinee.2015.03.006. PMID 25777744.
  35. ↑ 35.0 35.1 Tsao YP, Tsai CY, Chen WS (December 2015). "Maffucci Syndrome". J. Rheumatol. 42 (12): 2434–5. doi:10.3899/jrheum.150216. PMID 26628708.
  36. ↑ 36.0 36.1 36.2 Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H (February 2016). "Maffucci syndrome and neoplasms: a case report and review of the literature". BMC Res Notes. 9: 126. doi:10.1186/s13104-016-1913-x. PMC 4769492. PMID 26920730.
  37. ↑ Moriya K, Kaneko MK, Liu X, Hosaka M, Fujishima F, Sakuma J, Ogasawara S, Watanabe M, Sasahara Y, Kure S, Kato Y (March 2014). "IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome". Cancer Sci. 105 (3): 359–62. doi:10.1111/cas.12337. PMC 4317937. PMID 24344754.
  38. ↑ Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV (November 2011). "Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome". Nat. Genet. 43 (12): 1256–61. doi:10.1038/ng.1004. PMC 3427908. PMID 22057234.
  39. ↑ Al-Katib S, Al-Faham Z, Grant P, Palka JC (June 2015). "The Appearance of Maffucci Syndrome on 18F-FDG PET/CT". J Nucl Med Technol. 43 (2): 131–2. doi:10.2967/jnmt.114.146480. PMID 25537758.
  40. ↑ 40.0 40.1 40.2 40.3 Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB (October 2014). "Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes". Am. J. Med. Genet. A. 164A (10): 2633–7. doi:10.1002/ajmg.a.36672. PMC 4496426. PMID 25044986.
  41. ↑ 41.0 41.1 41.2 Sarici D, Akin MA, Kurtoglu S, Tubas F, Sarici SU (2014). "A Neonate with CLOVES Syndrome". Case Rep Pediatr. 2014: 845074. doi:10.1155/2014/845074. PMC 4221976. PMID 25400966.
  42. ↑ 42.0 42.1 Alomari AI, Burrows PE, Lee EY, Hedequist DJ, Mulliken JB, Fishman SJ (August 2010). "CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism". J. Thorac. Cardiovasc. Surg. 140 (2): 459–63. doi:10.1016/j.jtcvs.2010.04.023. PMID 20537357.
  43. ↑ 43.0 43.1 Gopal B, Keshava SN, Selvaraj D (2015). "A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome". Indian J Radiol Imaging. 25 (1): 71–3. doi:10.4103/0971-3026.150166. PMC 4329693. PMID 25709171.
  44. ↑ Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML (June 2012). "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome". Am. J. Hum. Genet. 90 (6): 1108–15. doi:10.1016/j.ajhg.2012.05.006. PMC 3370283. PMID 22658544.
  45. ↑ 45.0 45.1 45.2 Rocha R, Estrella M, Amaral D, Barbosa AM, Abreu M (2017). "Proteus syndrome". An Bras Dermatol. 92 (5): 717–720. doi:10.1590/abd1806-4841.20174496. PMC 5674710. PMID 29166516. Vancouver style error: initials (help)
  46. ↑ 46.0 46.1 El-Sobky TA, Elsayed SM, El Mikkawy DM (December 2015). "Orthopaedic manifestations of Proteus syndrome in a child with literature update". Bone Rep. 3: 104–108. doi:10.1016/j.bonr.2015.09.004. PMC 5365241. PMID 28377973.
  47. ↑ 47.0 47.1 47.2 Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM (January 2015). "Myocardial fat overgrowth in Proteus syndrome". Am. J. Med. Genet. A. 167A (1): 103–10. doi:10.1002/ajmg.a.36773. PMC 4275354. PMID 25377688.
  48. ↑ Sarman ZS, Yuksel N, Sarman H, Bayramgurler D (June 2014). "Proteus syndrome: report of a case with developmental glaucoma". Korean J Ophthalmol. 28 (3): 272–4. doi:10.3341/kjo.2014.28.3.272. PMC 4038735. PMID 24882963.
  49. ↑ Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG (December 2015). "Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome". Sci Rep. 5: 17162. doi:10.1038/srep17162. PMC 4675973. PMID 26657992.
  50. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Biesecker LG, Sapp JC. PMID 22876373. Vancouver style error: initials (help); Missing or empty |title= (help)
  51. ↑ 51.0 51.1 51.2 51.3 Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S, Alves CA (2013). "Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report". An Bras Dermatol. 88 (6): 982–5. doi:10.1590/abd1806-4841.20132730. PMC 3900354. PMID 24474112.
  52. ↑ 52.0 52.1 Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A (2013). "Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome". J Clin Res Pediatr Endocrinol. 5 (4): 261–5. doi:10.4274/Jcrpe.984. PMC 3890226. PMID 24379037.
  53. ↑ 53.0 53.1 53.2 Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ (January 2014). "Bannayan Ruvalcaba Riley Syndrome". ACG Case Rep J. 1 (2): 90–2. doi:10.14309/crj.2014.11. PMC 4435287. PMID 26157835.
  54. ↑ 54.0 54.1 Downey C, López-Gutiérrez JC, Roé-Crespo E, Puig L, Baselga E (July 2018). "Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome". Pediatr Dermatol. 35 (4): e243–e244. doi:10.1111/pde.13514. PMID 29766551.
  55. ↑ 55.0 55.1 Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V (August 2018). "CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype". Genet. Med. 20 (8): 882–889. doi:10.1038/gim.2017.200. PMID 29446767.
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