Vascular Malformations, Skeletal Deformities Including Macrodactyly, Embryonic Veins

Vascular Malformations, Skeletal Deformities Including Macrodactyly, Embryonic Veins

1.) Give a general classification and nomenclature to think about when evaluating these patients 2.) Share some helpful tips to narrow the differential in a minute or less of interaction 3.) Discuss some helpful imaging recommendations focusing on ultrasound Vascular Anomalies Tumors: Malformations: Hemangiomas: Low flow: Infantile Hemangioma (IH) Capillary malformation (CM) Rapidly involuting congenital hemangioma (RICH) Non-involuting congenital hemangioma (NICH) Venous malformation (VM) Kaposiform Hemangioendothelioma Lymphatic malformation (LM) (KHE) High flow: Arteriovenous malformation (AVM) Tufted Angioma (TA) Combined including syndromic VA. Other rare tumors www.issva.org • 2014 ISSVA classification is now 20 pages long • The key is that the imaging characteristics have not changed • Rapidly growing field • Traditionally, options were always the same – Surgery – Do nothing • With the increase in awareness and research as well as the development of the specialty of vascular anomalies: New Treatment Options Available – Treatment directly linked to diagnosis • Today, we have: – Interventional catheter based therapies – Laser surgery – Ablation technologies: Cryo, RFA, Microwave, etc. – Direct image-guided medications to administer – Infusion medicines – Oral medicines – Surgery- although much less common – Do Nothing- a VERY important alternative • Survey sample of 100 Referred patients – 47% wrong Dx – 35% wrong Tx • 14% wrong Tx with correct Dx • VAC – 14% indeterminate or wrong Dx – only 4% leave with no Tx plan • Important because different diagnosis have different treatments! • How to navigate the EMR – Previous surgery or treatment, biopsy report • Family history • Right protocol was done to answer question • Clinical questions • Correct diagnosis • Intralesional clotting • Angioarchitecture • Anatomic space involvement • Hamartomatous component • Single or multifocal, accurate size • Presence of overgrowth • “I have some crazy vascular malformation thing I need you to scan, not sure what I am looking at” • Questions: – How long has it been there, since birth? – Anybody in family have similar? – When did it start hurting or was noticed? – Is it growing fast or with patient? • The glance: – Is there a scar? – Is there skin discoloration? – Is there vesicles? Is there blebs? – Are there hard pebbles? • This is the first fork in the road, very important one • Four helpful differentiators: – Cystic, solid or bundle of vessels – Skin involvement – When did symptoms start – Growth in proportion or out of proportion to patient growth Vascular Anomalies Tumors: Malformations: - Cell proliferation - Normal cell turnover - Can spontaneously involute - No spontaneous involution - Small or absent at birth - Usually seen at birth - Rapid growth during infancy - Growth proportional to patient • Most common vascular tumor • MASS is NOT present at birth, a pink stain in location of future infantile hemangioma can be • Many of these will not be imaged • Proliferation and then involution natural history PHACES LUMBOSACRAL AND MIDLINE NECK/BACK -35-51% of associated deep involvement -Spinal dysraphism, deep involvement -PELVIS, SACRAL, LUMBAR all discuss dysraphism, anogenital, renal, urologic, arterial and bony anomaly syndromes Post Gad • Most clinically significant we see are congenital hemangiomas (RICH and NICH), KHE and Verrucous Hemangioma (unclassified) • Kaposiform Hemangioendothelioma (KHE) clinically significant because of Kasabach-Merritt and Tx. • Congenital Hemangiomas due to bleeding and Tx. • Maximum growth percentage wise at birth • RICH rapidly involutes, see auto infarct signs of cystic/necrotic change and calcification, bleeding • In liver known as Infantile Hemangioendothelioma • Mild Thrombocytopenia (Not like KHE), Cardiomegaly, Heart Failure • NICH grows in proportion to patient, superficial always a bleeding risk, arterial tumor • No medicine works for RICH or NICH, commonly tried • Surgery with or without embolization standard – With RICH, conservative if possible, less is more • Be aware of mimickers: Infantile Fibrosarcoma, KHE infancy 1 year 4 years -observe the veins,Ca++ • KHE locally aggressive vascular neoplasm of children • Kasabach-Merritt phenomenon (KMP) – up to 71% report to have thrombocytopenia • High mortality rate : reported at 24 %, better today • Strong lymphatic component, watch for spread Treatment: – Medical first • mTor inhibitors, namely Sirolimus, now first line, oral • Vincristine has long track record of success also, needs port – Surgery if resection possible – There have been reports of spontaneous involution Behr GG, Johnson CM. Vascular anomalies: hemangiomas and beyond—part 1. Fast-flow lesions. AJR 2013 Feb;200(2):414-22. A B C • Different Type of Lesion, also called Angiokeratoma – Officially “unclassified” in ISSVA, GLUT-1 positive • Must clinically suspect to manage properly • Keratotic, wart-like lesion with red to purple color • Does not involute, with continue growth • Treatment is surgical or CO2 laser • Needs biopsy • No medical therapy successful, many tried • Is it lymphatic malformation? • Is it venous malformation? • Is it arteriovenous malformation? • Cause painful flares, classified macrocystic and microcystic • Fluid/fluid levels of hemorrhage, surrounding inflammation of superinfection, size change • Anatomic location, especially with airway association • Atypical features: calcification, thick walls, nodules • Location, location, location • Outflow size and connection • Clotting, most common with spongiform “grapes” type • Classic misses at VAC: Plexiform N., synovial sarcoma • No mass on imaging despite clinical appearance of mass from edema and eschar • Associated CM suggest autosomal dominant RASA1 • These classically become more symptomatic with puberty and pregnancy, hormonally responsive – Common teenage presentation • The clinical key is steal phenomenon, despite increased flow, decreased oxygenation • Angioarchitecture description key- feeding arteries and draining veins, dominant/codominant • Treatment includes embolization and surgery, no medical therapy proven successful - Four clinical stages: 1. Quiescent 2. Expansion – classic at puberty 3. Destruction (ulceration, bleeding and pain) 4. High outflow heart failure (rare) 16 hours of embo before • Dramatically different management and complications • Should be taken care of by multidisciplinary team when possible • Entities include Klippel Trenaunay (KTS), Parkes Weber (PWS), CLOVES, Proteus and many more • Need to know embryonic anatomy – Lateral Marginal, Sciatic, other – Size, course and outflow communication key • Need to know any macrocystic or focal spongiform VM components and compartments contained • Pay attention to bladder wall, uterus and colonic wall, invasion can be subtle and hugely important • Purely high-flow overgrowth, no masses or slow flow component – Familial seen, CM-AVM, RASA1 mutation • Clinically will look like arterial insufficiency in elderly, AV shunting causes relative distal ischemia • Typically at angio have AVF’s and AVM’s • Complex overgrowth syndrome- Congenital Limb Overgrowth, Vascular Malformation, Epidermal Nevus and Spinal Anomalies/Scoliosis • Significant overlap with KTS- embryonic vein findings most clinically important, can have chest wall and upper extremity • Second and third ray upper/lower macrodactyly The E in cloves • Mosaic, progressive and sporadic – Nature of the syndrome is essential diagnostic criteria – Historically, like KTS, most named Proteus not Proteus • Cerebriform connective tissue nevus is pathognomonic • Hemihypertrophy, kyphoscoliosis, epidermal nevus, vascular malformations, skeletal deformities including macrodactyly, embryonic veins .

View Full Text

Details

  • File Type
    pdf
  • Upload Time
    -
  • Content Languages
    English
  • Upload User
    Anonymous/Not logged-in
  • File Pages
    73 Page
  • File Size
    -

Download

Channel Download Status
Express Download Enable

Copyright

We respect the copyrights and intellectual property rights of all users. All uploaded documents are either original works of the uploader or authorized works of the rightful owners.

  • Not to be reproduced or distributed without explicit permission.
  • Not used for commercial purposes outside of approved use cases.
  • Not used to infringe on the rights of the original creators.
  • If you believe any content infringes your copyright, please contact us immediately.

Support

For help with questions, suggestions, or problems, please contact us