Multifocal vascular anomalies: Common, less common, and rare
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1 Multifocal vascular anomalies: Common, less common, and rare Ilona J. Frieden Professor of Dermatology and Pediatrics University of California, San Francisco Conflict of interests: Pierre Fabre Dermo-Cosmétique Medimetriks Pharmaceuticals, Inc. Menlo Therapeutics Pfizer Inc.
2 DISCLOSURE OF RELATIONSHIPS WITH INDUSTRY Ilona Frieden DISCLOSURES Menlo Therapeutics Bridge BioServices Pfizer Pierre Fabre Dermatology
3 Overview Emphasis on early presentations Legacy of diffuse neonatal hemangiomatosis Multifocal vascular tumors Infantile hemangioma Multifocal lymphangioendotheliomatosis Other Multifocal vascular malformations Venous malformations Glomuvenous malformations CM-AVM
4 Not on the List Not Hereditary hemorrhagic telangiectasia (HHT) Multifocal vascular typically later in life Rarely Cerebral Cavernous Malformations If early onset usually only 1 or 2
5 Pediatr Dermatol Feb;3(2): Diffuse Neonatal Hemangiomatosis Case from Literature More than 100 lesions at birth Lytic lesions in virtually every long bone Brain, GI mucosa, pleura, kidneys all studded with vascular growths (post-mortem) Died despite corticosteroids and supportive care Golitz LE, Rudikoff J, O'Meara OP. Diffuse neonatal hemangiomatosis. Pediatr Dermatol Feb;3(2):145-52
6 Not all hemangiomas are Infantile Hemangioma Natural history of IH: not dozens of vascular tumors at birth Immunohistochemical markers now allow specific diagnosis Distinguishing different diseases: Better able to define extra-cutaneous associations North PE et al. GLUT1: a newly discovered immunohistochemical marker for juvenile hemangiomas. Hum Pathol Jan;31(1):11-22
7 MLT and CAT We reported his case and 2 others: MLT : North P et al. Multifocal lymphangioendotheliomatosis with thrombocytopenia: a newly recognized clinicopathological entity. Arch Dermatol May;140(5): Short time later: CAT : Prasad V et al. Cutaneovisceral angiomatosis with thrombocytopenia. Pediatr Dev Pathol Jul-Aug;8(4):
8 Revisiting Diffuse Neonatal Hemangiomatosis We performed a systematic review 180 articles Looked at clinical, laboratory, and histopathology 73 cases had sufficient information to categorize into 3 groups IH/probable IH (59%) MLT (23%) Multifocal vascular lesions, NOS (18%) Glick ZR, Frieden IJ, Garzon MC, Mully TW, Drolet BA. Diffuse neonatal hemangiomatosis: an evidencebased review of case reports in the literature. J Am Acad Dermatol. 2012;67:
9 Multifocal Vascular Tumors Infantile Hemangiomas MLT/CAT Other: Multifocal PGs Multifocal RICH Others yet to be defined
10 Multifocal Infantile Hemangiomas Most common of the multifocal vascular tumors Numbers from a few to hundreds Main risk of extra-cutaneous involvement is hepatic IH Other sites much less common GI IH is more likely with segmental IH not multifocal Rare outliers; evaluation based on signs symptoms, not routine
11 Multifocal IH: Evaluation and Management 5 of more IH: Liver ultrasound (yield ~15%) If liver hemangiomas Thyroid function tests Is there evidence increased blood flow to and from liver? Are hepatic hemangiomas diffuse or not? Horii KA et al Pediatr Dermatol. 2011;28:
12 Hepatic IH Like cutaneous IH most don t need treatment If mild disease, repeat monthly until going away Ultrasound less important after age 6 months Two major morbidities in hepatic IH High-output CHF Diffuse liver IH with consumptive hypothyroidism Propranolol 1 st line treatment for H-IH Varrasso et al Hepatology. 2017;66: Avagyan S et al. J Pediatr Gastroenterol Nutr. 2013;56:e17-20
13 MLT/CAT Multifocal vascular tumors often present at birth Usually increase in numbers Main extracutaneous features are GI bleeding and fluctuating thrombocytopenia Many additional organs systems can be involved e.g. CNS, lungs, liver, kidneys, spleen Several skin clinical phenotypes
14 MLT/CAT Summary 2 nd most common multifocal vascular tumor of infancy Varied clinical presentations Clinicopathologic correlation essential Genomics may prove helpful but no gene reported yet Sirolimus emerging as important treatment
15 Other Multifocal Vascular Tumors: Still a lot to Learn
16 ~20-30 friable papules especially scalp Mother had PG during pregnancy Histopath c/w PG More recurred after removal of largest scalp PGs Browning JC et al. Pediatr Dermatol May- Jun;26(3):323-7.
17 Congenital PG-like presentation: Case 2 Decreased fetal movements Anemia and coagulopathy at birth New papules appeared Dozens removed path c/w PG Eventually slowly regressed and at age 19 years reportedly healthy
18 . Funk T, Lim Y, Kulungowski AM, Prok L, Crombleholme TM, Choate K, Bruckner AL. JAMA Dermatol Sep 1;152(9):
19 Details of Case Mass on back detected in utero at 30 weeks GA At birth huge mass and hundreds of other cutaneous lesions Platelets 8K, anemia, elevated D-Dimers DIC resolved after resection of large mass Pathology was most c/w Rapidly-involuting CH Somatic mutation in GNA11 both back & leg but not saliva Suggests best dx is multifocal RICH This report points out importance of genomics in solving these mysteries!
20 Multifocal Vascular Malformations Multifocal venous malformations AKA Blue rubber bleb nevus syn Glomuvenous malformations CM-AVM
21 Multifocal Venous Malformations Familial (Autosomal dominant) Sporadic Multifocal VM Blue-rubber bleb nevus syndrome (Multifocal VM plus GI tract involvement) All 3 forms due to mutations in TEK
22 Blue Rubber Bleb Nevus syndrome Skin lesions: Often a dominant VM (frequently congenital) Others VMs are generally small, < 1-2 cm, blue to purple in color, compressible, often hyperkeratotic, favoring palms and soles GI tract involvement typical Usually not inherited Due to double cis mutations in TEK Soblet et al. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. J Invest Dermatol Jan;137(1):
23 Soblet et al. Journal of Investigative Dermatology , DOI: ( /j.jid )
24 Soblet et al. Journal of Investigative Dermatology 2017;137,
25 GVM as a cause of multifocal malformations Most common inherited vascular malformation 90% penetrance so parents may be clinically unaffected Genetic testing (germline) needed to confirm Regional /segmental stains at birth with unusual appearance Multifocal disease often appears in first few years Variable pain often present Skin/SQ but occasionally IM Brouillard P et al. Genotypes and phenotypes of 162 families with a glomulin mutation. Mol Syndromol. 2013;4:157-64
26 CM-AVM 1 and 2 Recent discovery of EphB4 as cause of CM-AVM2 50% of CM-AVM have germline RASA1 mutations Telangiectasias more common CNS AVMs may be less common Significant minority with CM- AVM have neither RASA1 or EphB4 Figure from Yu et al. Amyere et al. Circulation. 2017;136: Yu et al Pediatr Dermatol. 2017;34:e227-e230
27 CM-AVM: Some Take-aways High-flow stains & multifocal stains important clues Capillary refill almost instantaneous Parkes Weber may be somatic variant OR type II mosaicism Always ask about FH of birthmarks, brain vascular incidents Refer for genetic counselling and testing: RASA1 or EphB4 10% risk of spinal or brain AVM MR imaging of brain and spine when and how often? High-risk OB for mother even if father is carrier Revencu N et al Hum Mutat. 2013;34:
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