Birth Marks

Children often present with a variety of birthmarks – these can be asymptomatic or develop into diseases. They can be categorised by their colour.

 

Blue birthmarks

 

Mongolian Blue spots

These are congenital marks, which occur mainly in Asian/African children
– Colour occurs as dermal melanocytes become interrupted in their migration from neural crest to epidermis in utero. They are completely asymptomatic

Appearance – Blue-grey macules, usually lumbosacral

Brown birthmarks

 

Congenital Melanocytic naevi

These are congenital marks which occur due to congenital proliferation of melanocytes

Appearance
– Present as a brown plaque which can be hairy.
– Size ranges Small/medium/ Large/ giant

Giant congenital melanocytic naevi (GCMN), are associated with other conditions:
– Neurocutaneuous melanosis –> melanocyte proliferation into the CNS
– Melanoma
– Ulceration

The malignancy risk of GCMN is 15% in giant lesions, especially those which have “satellite” lesions
– 70% of the malignancy occurs before puberty, and can be extra-cutaneous (involving the CNS)

Red birthmarks

 

These types of birthmarks get their red colour as they involve the vascular system. They are split into two categories which are often confused:

 

Vascular tumours

This refers to a benign or malignant tumour (abnormal growth) of the cells forming the arteries, veins and capillaries. They are not clinically present at birth and have a period of rapid growth.

 

Capillary haemangioma (strawberry naevus)
This is a common benign tumour in infancy of the capillary system.
– Usually found on the face, scalp and back and seen in about 10% of Caucasian infants
– It can bleed, ulcerate and also rarely obstruct the visual fields or airway

Appearance – Presents as red, raised, multilobed mark on the skin

Septal Haemangiomas

– more serious, occur at a younger age and often 10x larger Facial segmental haemangiomas are associated with PHACE syndrome
– Posterior fossa abnormalities
– Haemangiomas
– Arterial abnormalities
– Cardiac abnormalities
– Eye abnormalities

The haemangioma also causes vascular steal from other developing tissues, giving other abnormalities.

Management
– We only treat certain hemangiomas which present specific risks. These include:
– Ulceration
– Airway obstruction
– Periocular haemangiomas – these often compromise visual axis and development of binocular vision

 

1st line treatment = Oral propranolol (b-blocker) in 1st year
– Alters expression of growth factor
– Gives increased apoptosis
– Increased constriction of blood vessels

Vascular malformations

This refers to an error in the development of vascular embryological tissue.
– These are present at birth and grow slowly and proportionately with the child:

Stork mark (naevus simplex)

This occurs due to a (transient) capillary malformation giving marks which become more prominent with crying. Occurs in 40% of newborns

Appearance
– A flat, pink macule which occurs on forehead, eyelids and back of neck

Management
– Lesions usually fade spontaneously within 2 years

Port wine stain (PWS)

This is a type of permanent capillary malformation which is present at birth

Appearance
– Pink macule with a midline cutoff
– It occurs anywhere including the face
– Often darken and become elevated with time

Management
– No cure available
– Laser therapy can be used to reduce the colour

N.B. A PWS in the frontal placode is associated with Sturge Weber Syndrome:
– This is a rare congenital neurological and skin disorder, due to genetic mutation in gene GNAQ
– Causes overabundance of capillaries around ophthalmic branch of CN V + malformation of blood vessels

Symptoms:
– Port wine stain –> due to abnormal development of vascular tissue
– Seizures –> due to vessel abnormality to the leptomeninges
– Glaucoma –> due to vessel abnormality around the eyes

Management:
– Treated on a symptomatic basis e.g. ophthalmology for glaucoma, anti-epileptics for seizures
– Cutaneous mark – partially treated by laser therapy

Sources

Image 1: Gzzz / CC BY-SA (https://creativecommons.org/licenses/by-sa/4.0)

Image 2: Arya S, Jain M, Bunkar M, Takhar R / CC BY-SA (https://creativecommons.org/licenses/by/4.0)

Image 3: User:Zeimusu / Public domain

Image 4: Cbheumircanl / Public domain

Image 5: Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K, et al. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics 2010;126:e418–26.

Image 6: Abigail Batchelder / CC BY -SA (https://creativecommons.org/licenses/by/2.0)

Image 7: ArturroD / CC BY-SA (https://creativecommons.org/licenses/by-sa/3.0)

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