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LIVE BLOG: Birthmarks – When to Worry?

In this live blog from the 11th Annual SDPA conference, Jim Treat, MD gave a lecture entitled Birthmarks – When to Worry? Below are some of the highlights of the lecture.

The objectives of this lecture are to first divide up “birthmarks” based on appearance/color and then decide when to worry. 

Categories

  1. Yellow/Tan
  2. Brown
  3. Red
  4. Deep lumps with no color
  5. Location Specific Problems

Dermoscopy is very helpful for looking at lesions. We usually try not to biopsy when it comes to pediatric dermatology.

::YELLOW/TAN LESIONS:: 

The first color we’ll cover are yellow and tan lesions. Lesions that fall into this color include juvenile xanthogranuloma (JXG), mastocytosis, and nevus sebaceous. We will review characteristics and when to worry.

JUVENILE XANTHOGRANULOMA (JXG)

It is yellow-brown asymptomatic papules and nodules. More yellow with diascopy (glass slide over top).

Prognosis:

  • Most develop within first year, some at birth 
  • Spontaneously involutes by school age

WHEN TO WORRY?

Extracutaneous involvement is rare:

  • Eye lesions present with hyphema (bloody conjunctiva) 
  • Rarely involve testes, lung, liver, spleen, pericardium – but beneficial to feel for these things
  • Ocular Involvement 
  • Most common extracutaneous site
  • But RARE – Only occurs in 0.3-0.5% of patients with skin lesions
  • Typically involve Iris and Ciliary Body – can also present as eyelid, epibulbar, or orbital lesions
  • Can present as – HYPHEMA

– IRIS MASS (localized or diffuse) – RED EYE (Uveitis or Glaucoma) – IRIS HETEROCHROMIA

Darier sign – red welt will form when rubbed

 MASTOCYTOSIS

  1. Solitary: mastocytoma 
  2. Multiple: urticaria pigmentosa 
  3. Diffuse: diffuse cutaneous mastocytosis
  • Localized collections of mast cells
  • Clinically appear as tan macules or brown plaques which usually develop within the first 2 years of life
  • Darier sign is diagnostic and simple (but be careful to only rub the edge, especially on a large lesion)

Symptoms produced by localized release of histamine that can cause flushing, diarrhea, hypotension.

WHEN TO WORRY?

Systemic Mastocytosis – almost no normal skin

If weight loss, easy bruising/bleeding, hepatosplenomegaly, lymphadenopathy consider systemic disease

NEVUS SEBACEOUS

Clinical Characteristics: 

– Overgrowth of normal sebaceous glands

  • No Hair in the Area 
  • Congenital 
  • Often Oval or Elongated 
  • Yellow-brown
  • Slightly bumpy (papular)
  • Nearly always head and neck

Risk? 

  • 5-15% quoted skin cancer is OVERSTATED
  • There are many types of benign growths which can arise in nevus sebaceous
  • (syringocystadenoma papilliferum, trichoblastoma)
  • If do get skin cancer it is typically after puberty and basal or squamous cell which can be cured with local excision if caught early

Therapy consists of surgical removal OR clinical follow-up

WHEN TO WORRY?

Nevus sebaceous syndrome – huge nevus sebaceous

 

::RED BIRTHMARKS:: 

The next color we will cover are red birthmarks.  These include vascular anomalies such as hemangiomas and also capillary malformations, port wine stains and nevus flammeus. We will go in depth into hemangiomas and some concerns and treatments for more serious cases. We will also address PHACES syndrome and SACRAL syndrome.

 

ISSVA Classification of Vascular Anomalies

Vascular Tumors

– Infantile Hemangiomas

– Fully formed at birth

– Rapidly Involuting Congenital hemangioma (RICH)

– Non-Involuting Congenital hemangioma (NICH)

  • Hemangioendotheliomas 
  • Tufted Angioma 
  • Angiosarcoma

Vascular Malformation

Slow Flow

• CapillaryMalformation (Port Wine Stain)

  • Lymphatic 
  • Venous 

Fast Flow 

  • Anyeurism 
  • AVM

WHEN TO WORRY?

Depends on how old the child is:

Hemangioma Risk factors

  • Maternal age over 30
  • Female gender (of baby)
  • CVS or Amniocentesis testing or other disruption of placenta
  • Being a twin 
  • Prematurity

Hemangioma Time Course

Appearance

  • Typically not present at birth 
  • Usually begin as a feint red patch or “bruise” at age 2-6 weeks

Rapid growth phase

  • Grow rapidly (faster than the child) in the first 1-4 months
  • Many hemangiomas stop growing by 4 months 
  • Therefore patients need to be seen ASAP to intervene.

Slow growth phase

  • Grow with the child between months 4 -12 Involution
  • Involution 
  • Can start after 1 year of age but can take up to 9 years (age 10)

 

Hemangiomas of Infancy: When to worry?

Location, Location, Location

RISK? 

  • Segmental and Abortive Hemangiomas
  • More than 5 hemangiomas 
  • Jawline/neck => Airway Involvement
  • NasalTip => Permanent Disfigurement
  • Perioccular => Vision Risk
  • Lips => Breathing/eating/bleeding risk
  • Perineal => Bleeding
  • Large Hemangiomas => Depends on location

Ulceration 

Rapid Growth

Beard distribution hemangiomas 

  • Airway, airway, airway
  • Subtle respiratory wheezes or croup can be a sign of significant obstruction
  • Modest URI can cause enough edema to “tip over the edge”
  • Lateral neck films are useful but limited 
  • ENT evaluation

PHACE(S) syndrome

P – posterior fossa malformation (DWS) 
H – hemangioma (large facial)
A – arterial anomalies (internal carotid)
C – cardiac (CoA, VSD, PDA)
E – eye abnormalities (cataracts, glaucoma, microphthalmia)
S – sternal defects

SACRAL Syndrome

S – Spinal Dysraphism 
A – Anogenital anomalies
C – Cutaneous
R – Renal and Urologic Anomalies
A – Angioma
L – Lumbosacral

Neonatal Hemangiomatosis 

• Liver Involvement

– Rarely associated with thyroid dysfunction due to type III deiodinase

– Possibility of shunting and heart failure 

• CNS involvement or other?

 

Hemangioma Therapeutic options: All therapies are off-label

1. No therapy 
2. Topical/Laser 

  • Pulse Dye Laser 
  • Topical steroids 
  • Timolol gel – topical version of Propranolol

3. Systemic 

  • Propranolol – this has become standard of care in the last 5 years
  • Prednisolone 

4. Surgical removal – almost never done anymore

 

Propranolol therapy explanations

• Down-regulation of VEGF or bFGF so MAP kinase pathway down regulated

  • Direct apoptosis 
  • Direct vasoconstriction of ?2 receptors

– But: second study in press shows Acebutolol (cardioselective) is also effective

 

Caveats and Risks – Who can’t get Propranolol

  • Children with PHACES and stenotic/tortuous vessels may be adversely affected by vasoconstriction
  • Risk of bradycardia, hypotension and hypoglycemia, hyperkalemia
  • May need inpatient stay in very young infants to start meds and monitor for side effects

BUT not everything is a “hemangioma”

Capillary Malformations = Port Wine Stain = Nevus Flammeus

• Present AT birth

• Unchanging except slight fluctuations with valsalva or rising/falling hemoglobin

  • Flat and purple 
  • If around eye risk for Congenital glaucoma – This is an emergency!!

If Capillary Malformation is in V1 there is risk of Sturge Weber Syndrome

Constellation of findings:

of V1 Capillary malformation
– Glaucoma
Calcifications in the leptomeninges leading to seizure risk.

  • How high is the risk? 

– V1 alone ~ 10%
– V1/V2/V3 or bilateral V1 ~ 30% 

  • Workup:

– Urgent evaluation by ophthalmology
– ? MRI
– ? CT scan

Skin Signs of Cranial OR Spinal Dysraphism

High Risk

  • Hypertrichosis
  • Dimples (>2.5cm from anal verge)
  • Skin tags/tails 
  • Lipomas 
  • HOIs 
  • Aplasia Cutis/Scar 
  • Dermoid cyst/Sinus

Low Risk

  • Telangiectasia 
  • Port Wine 
  • Hyperpigmentation 
  • Nevi

 

::BROWN BIRTHMARKS::

 

Congenital Nevi:

Divided up based on size 

  • – Less than 1.5cm = small 
  • – 1.5-20cm diameter= intermediate 
  • – Over 20cm diameter= Large/giant

Risk of malignancy? Also based on size, the bigger the worse

  • – Over 20 cm likely has risk of 3-10% of developing a melanoma
  • – Under 20 cm is likely less then 2% risk of melanoma

Therapy: 

  • Clinical follow-up for any new or changing areas : Nodules, papules, color change.
  • Surgery may decrease risk of melanoma but the benefits must outweigh the risks of severe scars and procedure

WHEN TO WORRY?

Neurocutaneous Melanosis

Melanocyte Migration into the spinal canal, Cerebrospinal fluid during development

  • Growth of these lesions can cause 
    • Space occupying lesion with headaches, seizures, paralysis 
    • Melanoma transformation: fatal

What it the risk?

  • Biggest risk is if there are over 20 congenital moles
  • Second highest risk is having a large nevus lying overtop of the midline spine or scalp
  • Image? 
  • Will it change management?
  • When?

Monitor Clinically: Ask about headaches, seizures, pain.

CONGENITAL NEVI: When to worry?

  • Rapid growth 
  • Nodules 
  • Irregular color 
  • Irregular borders

When in doubt: Biopsy!!!

 

SUBCUTANEOUS FAT NECROSIS

– Firm, red-purple tender nodules
– Cheeks, arms, back, thighs most likely
– Present within first 2 weeks of life
– Resolve spontaneously over weeks- months

  • May heal with atrophy, scarring 
  • Related to hypoxia, trauma during delivery or at birth
  • Associated with hypercalcemia
  • Important to check frequently as hypercalcemia can occur weeks after the nodules resolve

Conclusions

• Birthmarks come in many different varieties but color can help you divide them

• Location is often key to deciding when to worry

• If you are concerned, listen to your intuition

 

 

Image: Gonzalo Merat