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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