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Vascular Anomalies and Their Clinical Presentations

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Vascular Anomalies and Their Clinical Presentations OVERGROWTH SYNDROMES STURGE-WEBER SYNDROME BLAHBLAH PARKES WEBER SYNDROME ADDED MORE PROTEUS SYNDROME CLOVES SYNDROME KLIPPEL-TREANUNAY SYNDROME MAFFUCI SYNDROME STURGE-WEBER SYNDROME PARKES WEBER SYNDROME PROTEUS SYNDROME CLOVES SYNDROME KLIPPEL-TRENAUNAY SYNDROME MAFFUCCI SYNDROME 1 of 7 Endochonromatosis congenital lipomatosis overgrowth syndromes (subtype 2) vascular malformations epidermial, AKA Scoliosis/skeletal/spinal anomalies (CLOVES), Spindle cell hemangioma or soft tissue vascular anomaly incidence 1/50,000 newborns M = F CM, VM and/or LM + assymetrical VM +/- spindle-cell hemangioma + CM + VM +/- LM + limb overgrowth endochondroma CM + AVF +limb overgrowth somatic overgrowth facial + leptomeningeal CM + eye anomalies LM + VM + CM +/- AVM + lipomatous +/- bone and/or soft tissue overgrowth growth patients have normal intelligence 100 cases in literature defined by CM in V1 trigeminal nerve Lipomatosis mass associations (capillary venous component of the syndrome involvement but can also involve V2 & V3 diagnosis confirmed by detection of malformations [skin above mass] OR manifests as phlebectasia/abnormal multiple endochondromas & soft tissue General bruit or thrill neurology, opthamology, pulmonology lymphatic malformations within mass) drainage vascular lesions Increased risk for GH deficiency and central consultations needed (83%) hypothyroidism At risk of developing other tumors [brain, AVM within or around lipomatous masses commonly has soft tissue and/or bony pancreatic, ovarian, & AML M:F = 2:1 in paraspinal area (28%) pathognomonic: emrbyonic marginal overgrowth patients have subcutaneous and (60-83%) vein of Servelle in the subcutaneous intramuscular microshunting extracraniofacial capillary malformations Venous malformations (phlebectasia) tissue is isolated in the lateral calf/thigh possibly fatal due to pulmonary metastasis high risk of developing DVT (29%) involving truncal lesions (16%) from chondrosarcoma spindle cell: head & neck (25%) Morbidity: Glaucoma ( 65-77%), opthalmologic findings (40%) = stabismus, Head & Neck blindness, retinal detachment epibulbar cysts, epibulbar dermoids endochondromas: head (18%) neurologic problems (87-93%) & spine, neural tube defects (ex: leptomeningeal anomalies common encephalocele, spina bifida), tethered cerebral anomalies (40%) = cord Intracranial Morbidity: refractory seizures, development delays, seizures, contralateral hemiplegia, and/or delayed malformations Lipomatous mass -> infiltrate adacent motor and cognitive development, 75% of areas (retroperitoneum, mediastinum, seizures occur during the first year of life paraspinal muscles, and epidural space) Truncal Lipomatous mass in CM distributed over lateral side of posterolateral, back or flank = all extremity, buttock, or thorax spindle cell: trunk (29%) patients Pelvic involvement can cause can develop symptomatic Trunk spine, neural tube defects --> hematuria, bladder outlet obstructure, congestive heart failure (6%) cystitis, and hematochezia lipomatous mass --> macrocystic in pelvis/thigh endochondromas: scapula (20%), ribs (27%) Lymphatic abnormalities microcystic buttock, MSK anomalies - scoliosis abdominal wall, distal limb endochondromas: pelvis (25%) --> 3.8X Groin higher risk of transformation in any area generalized extracraniofacial capillary spindle cells hands (57%), foot (41%), most commonly involves one lower cerebriform CT nevi (palmar aspects of 10% can be hypoplastic malformations in (29%) arm (39%), leg (38%) extremity hands, plantar surface of feet, chest). Significant progression and often misdiagnosed in the extremity as pathognomonic. MSK anomalies: wide triangular feet, large Lower limb (95%), Upper extremity (5%), endochondromas: tibia/fibula (32%), foot Klippel-Trenaunay syndrome, or Parkes hands, macrodactyly (usually middle toe contralateral foot or hand may be enlarged, Extremity symmetrical enlargement (36%), femur (36%), humerus (34%), Weber syndrome or finger), widened "sandal gap" typically exhibit macrodactyly radius/ulna (29%) progressive, asymmetrical, first web space of toot disproportionate overgrowth of body unlike the other two syndromes, pts with Long bone & axial skeleton higher risk of Parkes weber via RASA1 mutation = association: thrombophlebitis (20%-45%) and Sturge-Weber do not have venous, lymphatic, parts (typically skeletal/limbs), adipose transformation (44%). hand & foot 14% upper limb (33%), lower limb (67%) PE (4-24%) or arterial anomalies in an extremity overgrowth transf. adipose overgrowth, cystic lung disease (9%), renal.urologic anomalies (9%), bone Visceral disorders (skull hyperostoses, renal agenesis or hypoplasia megaspondylodysplasia) overlying CM is heterogenous (single, Multifocal? multiple, localized, diffuse) Present at Birth? Yes Yes Yes average age presentation: 4 yrs old Growth Progression significant progression 27% patients diagnosed at birth 78% patients present prior to puberty Spindle cell occurs due to likely VM, blue in color, and empitied with pressure/elevation. Differential is CLOVES syndrome: but Contains phleboliths proteus patients have significant Appearance progression, cerebriform CT nevi & Endochondromas are endosteal & cause differentiated via AKT1 genetic progressive skeletal deformity such as mutation bowing, shortening of extremities, leg-length discrepancy, and scoliosis Size commonly have tumors: ovarian, Symptoms cystadenoma, meningioma, testicular pain with lipomatous masses see above tumor, parotid adenoma slow flow vascular formations Blood Flow Fast flow fast flow paraspinal malformations MRI: confirm dx & determine extent of CT/MRI: evaluate pulomnary cystic determine if spinal cord threatened by lipomatous lesion or AVM malformation lesions, intraabdominal lipomas, confirm tissues above AND below muscle fascia are CNS anomalies MRI delineates thoracic phlebectasia affected Imaging MR angiography & venography (non-specific) MRI other causes of extremity overgrowth only involve Skeletal radiographs to rule out the area above the muscle fascia magaspondylodysplasia or vertebral body Renal ultrasound: Wilm's tumor Ultrasound (non-specific) asymmetry non-specific, biopsy if malignancy Histopathology not indicated non-specific non-specific not indicated nondiagnositc is indicated sporadic or familial somatic mosaic PIK3CA mutations, non-familial, somatic mosaic GNAQ AKT1 with 5 specific PIK3CA mutations IDH1/IDH2 Gene activating mutation in PIK3C4 RASA1 mutation accounting for most cases LYMPHATIC MALFOR MATION MACmaRcOrocCyYstiScTIC MICmRicOCYrocystSicTIC COMBINcoEmDb i(nMedACRO + GENERALIZEGDL ALYMPHATIC KAPOSIFORM LYMKPLHA ANGIOMATOSIS GORHgoArhMam-S sTtoOUut diTse DasIeSEASE PRIMpAirmRaYry L lyYmMphPedHemEDa EMA MICRO) ANOMALY (GLA) (KLA) cystic hygroma discontinue use of congenital, AKA pracox, tarda to define age of onset lymphangioma 1.2/100,000 people under age 20 M:F = 2:1 high risk of infection (71%) M = F Males more likely to present in infancy [68%] M = F Females more likely present in adolescence [55%] macro > micro ratio = better Bone involvement 40% General accessed by needle too small to be cannulated Mean age presentation = 8 M = F prognosis associated w/ turner syndrome adolescence > childhood (2.6x) appendicular > axial skeleton chronic lymphedema: predisposes to Poor prognosis/ high mortality lymphngiosarcoma (0.07-.45%), recurrence and pulmonary metastasis FOXC2 mutation = Lymphedema Distichiases: extra row eyelashes Head & Neck most common is neck face cranium, cervical spine Hypotrichosis-Lymphedema-Telangiectasia [sparse hair & cutaneous telangiectasias] SOX18 mutation Hennekam Syndrome [generalized, developmental delay, flat fase, hypertelorism, broad nasal bridge Intracranial most common ribs Mediastinum (95%0 most common is ribs Trunk axilla (most common) axilla thoracic spine Retroperotineum (30%) clavicle Groin 4% isolated genital involvement DIstal limb is ALWAYS effected & swelling can migrate proximally humerus 91.7% lower extremity [50% unilateral, 50% Extremity extremities common bilateral], 16% upper extremity positive stemmer sign: inability to pinch femur dorsal skin of hand/foot due to edema + dermal thickening Hennekam Syndrome: visceral involvement Milroy Disease: infant with lower extremity lymphedema presents at Spleen 35% Visceral birth. + family OR VEGFR3mutation Meige Disease: adolescent with lower extremity lymphedema. Only with family history. multiple bones (mean 30 bones inolved), multiple bones (mean 7 bones involved = Multifocal? non-contagious always contagious) Present at Birth? Yes Yes Yes Yes Yes Yes Yes Yes progressive: overtime edema replaced with subcutaneous adipose tissue, increasing Growth Progression increase circumference of limb [Infancy 49.2%], [Childhood 9.5%], Adolescence [55%] Occurrence disappearing bones soft and compressible, blueish Appearance 56% overlying soft tissue abonormality see above hue, pink vesicles 95% overlying soft tissue abnormality Size 5 mm or larger <5 mm Thrombocytopenia (30%) Discrete lytic areas/radiolucency psychosocial morbidity pain & pathologic fractures confined to medullary cavity Cough/dyspnea (55%) painless, progressive, risk of bleeding & leaking Symptoms infection & cellulitis, distal limb [cutaneous vessel] Pericardial/pleural effusion (85%) always effected, ulceration rare 50% macrocystic, 63% splenic lesions, pleural effusion (42%), splenic/hepatic infection & bleeding 50% pleural effusion lesions (21%) Cutaneous stain/nodule (25%) Blood Flow Slow Slow Slow Slow Slow Slow Slow Slow Imaging osteolysis, cortical loss Lymphoscintigraphy
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