BIRTHMARKS, BUMPS AND BEYOND - ELENA B. HAWRYLUK, MD, PHD APRIL 2021

Birthmarks, Bumps and Beyond

    Elena B. Hawryluk, MD, PhD
             April 2021

Disclosures
   My spouse/partner and I have the following
relevant financial relationship with a commercial
               interest to disclose:

           Gritstone Oncology (salary, stock)
                     Path AI (stock)
                  UpToDate (royalty)
               Purity Brands (consultant)

Infantile Hemangioma
▪   Not present at birth
▪   Appears after few weeks of life
▪   Maximum size reached by 3-6 months
▪   Majority regress by 5-7 yrs. of age
▪   Most common tumor of infancy - 4 % of all children

Risk Dictates Management

High Risk                     Intermediate Risk
▪ > 5 cm on face,             ▪ Lateral face, scalp, hands,
  lumbosacral area               feet
▪ Bulky lesion on face        ▪ Body folds
▪ Early white discoloration   ▪ >5 cm trunk, arms, legs
▪ Central face
▪ Periorbital, perinasal,     Low Risk
  perioral                    ▪ Trunk, arms, legs

Multifocal Hemangiomas
▪ Established association between multiple
  cutaneous IH with hepatic hemangiomas
▪ Mortality 11-18%
▪ Screen for 5+ cutaneous IH
▪ If large burden - Thyroid function test
  —increased levels of a catalyst of a thyroid-
   inactivating enzyme (iodothyronine deiodinase)
   have been detected in cutaneous hemangioma
   tissues, large hepatic hemangiomas

Workup/Considerations
• Early diagnosis – maximize options for management

• Multiple hemangiomas
   – Abdominal ultrasound for hepatic involvement, thyroid
     testing
• Large regional hemangiomas
   – PHACE: cardiac/aortic echo, MRI/MRA brain, ophtho eval
   – LUMBAR: CT abdomen, renal/urologic workup
   – Airway: ENT/scope

• Later considerations: surgery, laser of residual lesions

Treatment: Early Discussion Is KEY
▪ Propranolol
▪ Oral corticosteroids
▪ Timolol
▪ Intralesional corticosteroids
▪ Wound care, pain control for ulcerated
  hemangiomas
▪ Pulsed dye laser
▪ Excision

Topical Timolol
Timolol 0.5% gel forming solution (off label use)
▪ 1-2 drops TOP BID
▪ Do not use on ulcerated hemangioma
  (absorption)
▪ Most common complaints: dryness, white
  peeling of medication on skin
▪ Effective for superficial hemangiomas (not
  absorbed well)

Pulsed Dye Laser
• Reduces redness
• 595 nm targets blood vessels, set pulse duration
  according to vessel width
• Series of treatments every 6-8 weeks. Can
  perform under local anesthesia (eye protection
  needed)
• Controversy re: use during ulceration
• No sun exposure/tanning
• Each treatment causes “bruising” – appears more
  purple, redness fades over 6-8 weeks

Capillary Malformation

My Favorite Pediatric
           Pigmented Lesions!
•   Congenital nevus
•   Atypical or Dysplastic nevus
•   Halo nevus
•   Nevus spilus
•   Spitz nevus

Nevi – Congenital nevus
• Nevus is present at birth

• Slightly increased risk of
  melanoma (skin or CNS)
  depending on number of
  lesions, size

• Small: 40 cm

Nevi – Atypical or Dysplastic nevus
• Abnormal features clinically or on pathology

• Melanoma risk:
  – single dysplastic nevus increases risk by 2X
  – having ≥10 increases risk by 12X - Tucker et al,
    1997

Nevi – Atypical or Dysplastic nevus
• NOT a “pre-melanoma”

• However, these nevi are
  markers for increased
  risk of developing
  melanoma!

Nevi – Halo nevus
• Immunological destruction of
  melanocytes and nevus cells

• Multiple halo nevi confer a
  higher risk of vitiligo and
  other autoimmune diseases

• Halo typically can persist an
  average of 7.8 years, with
  eventual involution and return
  to normal-appearing skin

Nevi – Nevus spilus
• Presents in early childhood
  like a café-au-lait patch,
  with development of
  brown papules and
  macules within

Nevi – Spitz nevus
• “melanoma of childhood”

• Common Spitz nevi may
  be monitored clinically

• Those with clinically
  unusual, changing, or
  concerning features are
  biopsied

ABCD Criteria for Melanoma Detection

Traditional MM        Pediatric MM
• Asymmetry           • Amelanotic
• Border              • Bump, Bleeding
• Color Variegation   • Color uniformity
• Diameter > 6mm      • De novo, any Diameter
• Evolution/Change
                      Cordoro K et al. JAAD June 2013

CUP Criteria for Pediatric Melanoma

Standard ABCDE criteria plus:
• Color that is pink/red, Changing
• Ulceration, Upward thickening
• Pyogenic granuloma-like, Pop-up of new lesions

                      Silverberg NB, McCuaig CC. Cutis 2013

Evolution Is Biggest Clue!

PATH: Spitzoid melanoma, 3.5mm, level IV, ulcerated, 14 mitoses/mm2

                                                                 Bartenstein et al, 2017