Selected Vascular Birthmarks. Ilona J Frieden M.D. University of California San Francisco
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1 Selected Vascular Birthmarks Ilona J Frieden M.D. University of California San Francisco
2 DISCLOSURE OF RELATIONSHIPS WITH INDUSTRY DISCLOSURES Venthera/Biobridge: Consultant Consulting Fees Pfizer Chair Data Safety monitoring board Fees
3 Using a systematic (checklist) approach Which to worry about What to do When to do it Trying to avoid overdoing MRI need for GA Costs both financial and emotional
4 Overview Vascular Stains: Nevus simplex Regular PWS What to worry about and how to approach 2 special types of stains Vascular tumors Infantile hemangioma risk of structural anomalies
5 Vascular Stains Previous all lumped under port-wine stain (or capillary malformation Important to separate Can affect associations and management Key article: Rozas-Muñoz E et al. Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management. Pediatr Dermatol. 2016;33:
6 Nevus Simplex Complex Mid-line and characteristic sites (vs PWS) Spontaneous resolution usually Most are not associated with extra-cutaneous dz Certain exceptions Juern et al. J Am Acad Dermatol 2010;63:805-14
7 Extracutaneous associations Megancephaly-Capillary Malformation (M-CM) Beckwith Weidemann syn Nevus-simplex like stain overlying developmental anomaly (e.g. lump, lipoma, hypertrichosis, aplasia cutis) Roberts SC (Pseudo-thalidomide syndrome) Nova syndrome
8 Beckwith-Weidemann Clinical features include: Neonatal hypoglycemia Macrosomia Hemihypertrophy Dysmorphic facies Prominent eyes Midfacial hypoplasia Omphalocele Hepatomegaly Posterior fossa
9 5 month old: scalp stain plus increased hair density
10 Port-wine stains of SWS patients Forehead confers risk most not classic V1 11/66 (16%) patients with upper facial PWS had SWS 0% 20% 20% Dutkiewicz et al. J Am Acad Dermatol. 2015;72: % 47% 27% Waelchli et al. Br J Dermatol. 2014;171:861-7
11 Worried about SWS: What to do? Eye exam if eyelid involvement upper or lower For higher risk PWS Ped Neuro referral Counsel family what to look for? MR-imaging? EEG Discuss laser options
12 What is our major DDX? Diffuse capillary malformation with overgrowth (GNAQ or GNA11) Overgrowth usually proportionate, non-progressive PIK3CA-related overgrowth syndrome (PROS) Overgrowth often progressive ± lymphatic, CNS, or other complications
13 Exam Essentials Head circumference (clue is big forehead ) Presence of nevus simplex/scalp Facial dysmorphism or asymmetry Overgrowth: Asymmetry/overgrowth of skin soft-tissue, muscles, bones Digits: overgrowth, syndactyly, splaying of digits
14 Widespread blotchy Stains with Overgrowth + Worrisome Features If large head and/or digital anomalies: Multidisiciplinary evaluation and management Genetics consult Consider somatic gene testing Neuro evaluation Consider brain MRI Depending on vascular birthmark: MRI with contrast affected areas with stain
15 Widespread stains minus worrisome features If lower extremity involvement: Serial leg measurements until growth completed If > 1-2 cm refer to orthopedics If no worrisome features: Initial f/u 3-6 months Thereafter annually
16 Two Special Vascular Stains Geographic Stains PIK3CA hot-spots usually the cause Fast flow stains Present with underlying AVM Parkes Weber syndrome due to RASA1
17 Geographic stains Maari C, Frieden IJ. J Am Acad Dermatol ;51:391-8.
18 All borders more sharply demarcated Frequent presence or development of blebs Less blanchable than blotchy PWS Suggest lymphatic disease Sign of PIK3CA overgrowth syn (PROS) Geographic stains
19 Geographic stains Checklist Watch over time for overgrowth and blebs Multidisciplinary care strongly advised! MRI with and without contrast Lymphatic complicationis Warn about blebs Risk of infection Wilms tumor surveillance? (for CLOVE) Coagulopathy risk
20 My checklist for high-flow stains Suspect if pink-red Check capillary refill Visits more frequently than if low-flow Monitor for overgrowth Monitor for emergence of other stains Careful FH Consider genetic counselling Consider MRI with/without contrast if progressive Discuss/consider biopsy for genomics
21 Multifocal Stains: Approach Always ask about family history (AD inheritance) Check capillary refill in stains Most (~90%) CM-AVM due to mutations in RASA-1 or EphB4 10% risk of spinal or brain AVM Timing of imaging or need for repeat? Genetic referral/testing Revencu N et al Hum Mutat. 2013;34: Amyere et al. Circulation. 2017;136:
22 Infantile Hemangiomas PHACE concern or not LUMBAR syndrome risk Krowchuk DP, Frieden IJ, Mancini AJ, et al. Clinical Practice Guideline for Management of Infantile Hemangiomas. Pediatrics Jan;143(1) pii: e Garzon et al. PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr Nov;178:24-33
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25 PHACE risk: What to do ~30% chance of PHACE hemangiomas > 5 cm diameter especially segments 1, 3 and 4 Complete PHACE w/u = MRI/MRA head and neck, cardiac echo, eye exam Haggstrom et al. Pediatrics. 2010;126:e Garzon et al. J Pediatr. 2016;178:24-33
26 Updated consensus criteria All infants with large segmental IH located on either the face or scalp PHACE should be considered with 1 major criterion of PHACE and a large segmental hemangioma of the neck, upper trunk, or trunk and proximal upper extremity 2 major criteria of PHACE (eg, supraumbilical raphe and coarctation of the aorta) but lacking cutaneous IH
27 Beyond the highest risk group: S2 and parotid IH are lower risk? partial work-up e.g. eye, echo less sure about MRI/A Other risk settings for PHACE Large periorbital IH even if not extending to S1 Large torso plus arm IH Segmental scalp Deep parotid Garzon et al. J Pediatr. 2016;178:24-33 Antonov et al. Pediatr Dermatol. 2015;32:e Nabatian et al. Pediatr Dermatol. 2011;28:
28 Key Take-away Severe coarctation of aorta is an absolute contraindication to propranolol therapy For patients at risk for PHACE, echocardiogram is most important initial test Need cardiology consultation Can be done without sedation
29 Cerebrovascular Risk Concerns re: propanolol in at-risk patients of possibly provoking CNS ischemia/stroke The reality: Risk is probably very low Most patients with PHACE need propranolol therapy to manage their hemangiomas Need to risk-stratify degree of CNS arteriopathy Siegel et al.stroke. 2012;43: Metry et al. Pediatr Dermatol. 2013;30:71-89
30 Risk Category Cerebrovascular Anomalies High Multiple vessels with severe narrowing or non-visualization without adequate collateral circulation and Moyamoya disease and Cardiac or Aortic arch anomalies Severe narrowing/stenosis b or non-visualization of 1 major vessel c without adequate collateral circulation and Moyamoya disease and Cardiac or Aortic arch anomalies Severe narrowing/stenosis b or non-visualization of 1 major vessel c without adequate collateral circulation and Moyamoya disease Severe narrowing/stenosis b or non-visualization of 1 major vessel c without adequate collateral circulation and Cardiac or Aortic arch anomalies Severe narrowing/stenosis b or non-visualization of 1 major vessel c without adequate collateral circulation Intermediate Severe narrowing/stenosis b of major vessels c with adequate collateral circulation Mild narrowing/stenosis d of major vessels c with adequate collateral circulation Hypoplasia, dysplasia, aberrant origin or course of major vessels c, e Persistent embryonic arteries Low No arterial anomalies
31 My mental check-list if patients have PHACE or at-risk for PHACE Neuro status (ideally with neurologist) especially Motor development Language development Hearing test (repeat even if normal as newborn) Dental development Somatic growth Development of headaches Late hemangioma growth
32 Risk for LUMBAR syndrome (Lower body IH, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial and/or Renal anomalies) Segmental/partial segmental IH >2 cm LS or Perineum
33 LUMBAR syndrome MRI (not ultrasound) with/without contrast needed for adequate exam of spine Renal u/s or other evaluations Not standardized Depends on clinical setting Iacobas et al. J Pediatr. 2010;157: e1-7
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