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| Line 177: |
Line 177: |
| | colspan="2" |lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth | | | colspan="2" |lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth |
| |} | | |} |
| ==Vascular malformations associated with other anomalies==
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| ===Klippel-Trenaunay syndrome===
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| * 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>
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| * 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>
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| * [[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>
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| * [[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>
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| ===Parkes Weber syndrome===
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| * 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]].
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| * Mutation in the RASA1 gene has been found to be associated with this syndrome.
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| * To learn more about Parkes Weber syndrome, click here.
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| ===Servelle-Martorell syndrome===
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| * 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>
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| * 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>
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| * 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>
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| ===Sturge-Weber syndrome===
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| * [[Congenital]] [[syndrome]] characterized by [[capillary malformations]] involving [[face]] and laptomeninges and [[eye]] abnormalities. There may also be bone and/or overgrowth.
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| * 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]].
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| * Associated with [[mutations]] in GNAQ [[gene]] that encodes for members of [[G protein]] family.
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| * To learn more about Sturge-Weber syndrome, click here.
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| ===Maffucci syndrome===
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| * 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>
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| * [[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>
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| * [[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>
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| * To learn more about maffuci syndrome, click here.
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| ===CLOVES syndrome===
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| * 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>
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| * 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>
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| * 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>
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| * 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>
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| ===Proteus syndrome===
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| * [[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>
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| * 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>
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| * 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>
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| * [[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>
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| * To learn more, click here.
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| ===Bannayan-Riley-Ruvalcaba syndrome===
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| * 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>
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| * 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>
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| * [[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>
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| * [[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>
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| * To learn more, click here.
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| ===CLAPO syndrome===
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| * 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>
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| * 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>
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| ==See also== | | ==See also== |
| * [[Vascular disease]] | | * [[Vascular disease]] |