Birthmarks Flashcards

1
Q

There are two broad categories of birthmarks:

  1. Vascular birthmarks:

=> Salmon patches

=> Haemangiomas

=> Port-wine stains (naevus flammeus)

A
  1. Pigmented birthmarks:

=> Moles (congenital naevi)

=> Cafè au lait spots

=> Mongolian blue spots

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2
Q

What is a salmon patch?

A

Salmon patch aka naevus simplex is a common, benign capillary vascular malformation.

It presents as a pink or red patch and is most often observed on the nape of the neck, eyelid or glabella.

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3
Q

Who is salmon patches most common in?

A

40% of caucasian infants

Male = Female

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4
Q

What are the clinical features of salmon patches?

A

Present at birth as a single or multiple, flat, pink or red patches

=> indistinct, irregular border and blanching on compression

=> becomes more red with crying, fevers, breath holding, straining, vigorous physical activity, changes in ambient temperature

=> disappears with increasing age

=> lesion occurs midline, bilateral and symmetrical

=> most common on the nape of neck, eyelids and glabella but also found on the forehead, scalp, nose, lips and back

=> not painful or itchy

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5
Q

Which diseases are associated with salmon patches?

A

Beckwith–Wiedemann syndrome

Macrocephaly-capillary malformation syndrome

Odontodysplasia

Nova syndrome

Roberts syndrome

Rubinstein–Taybi syndrome

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6
Q

Salmon patches:

=> Clinical diagnosis

=> Most fade within first 2 years of life

=> If treatment required = pulsed dye laser therapy to lighten the colour of a persistent lesion

A

INFO CARD

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7
Q

What is infantile haemangioma?

A

Infantile haemangioma aka strawberry naevus is the most common vascular benign skin tumour in children.

It is noticed in the first few weeks of life.

Infantile haemangiomas are usually solitary and mostly located on the head and neck region (60%).

It grows then regresses.

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8
Q

Who does infantile haemangioma affect?

What are the risk factors?

A

~10% caucasians

Girls > Boys [3:1]

Risk factors:
=> low birth weight increases the risk by 40% - affects every 1 in 4 preterm infants

=> Maternal factors e.g. advanced maternal age, sub fertility treatment, multiple pregnancy (e.g. twins/triplet), pre-eclampsia and placenta praevia.

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9
Q

What are the clinical features of infantile haemangiomas?

What are the potential complications?

A
1. Superficial lesions:
=> upper dermis
=> bright red
=> non-pulsatile
=> non tender
=> papules and plaques
=> warm to touch
  1. Deep lesions aka cavernous haemangioma:
    => deeper dermis & subcutaneous tissue
    => flesh coloured or blue
    => non-pulsatile
    => non tender
    => warm to touch
    => appear later and have a late growth phase compared to superficial lesions
  2. Mixed - features of both superficial and deep lesion
Potential complications:
=> mechanical i.e. obstructing visual fields / airway
=> bleeding
=> ulceration
=> thrombocytopenia
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10
Q

How is infantile haemangiomas distributed?

A
  1. Focal (77%) - solitary, discrete, circular or plaque like lesion
  2. Segmental (18%) - plaques in ananatomic distribution. Commonly assoc. with local complications / structural anomalies. Continued growth beyond 6 - 9 months
  3. Multifocal (3%) - several discrete localised lesions distributed over more than one anatomic site.
  4. Indeterminate - lesions are not definitely focal or segmental
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11
Q

What are the differential diagnosis for infantile haemangiomas?

A
  1. Vascular malformations - present at birth and persist with no proliferative or involutional phase
  2. Vascular tumours i.e. congenital haemangioma, pyogenic granuloma
  3. Locally aggressive tumours i.e. Kaposi sarcoma, Kaposiform haemangioendothelioma
  4. Malignant tumour i.e. angiosarcoma
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12
Q

How is infantile haemangiomas treated?

A

Propranol / topical beta blocker i.e. timolol if needed (e.g. for visual field obstruction, ulceration), otherwise resolves by itself.

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13
Q

What are port wine stains (naevus flammeus)?

Which syndrome is it associated with?

A

Unilateral vascular birthmarks deep red or purple in colour.

Unlike salmon patches, strawberry haemangiomas, port wine stains don’t spontaneously resolve. Often darken and become raised over time.

Treatment with cosmetic camouflage or laser therapy.

Assoc. with Sturge-weber syndrome - causes seizures, learning disorders, glaucoma

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14
Q

What is a congenital melanocytic naevus (brown birthmark)?

A

Proliferation of benign melanocytes present at birth or develop shortly after. They can be single or multi-shaded, round or oval shaped pigmented patches. They may have increased hair growth (hypertrichosis) and the surface may be rough or bumpy.

They usually grow proportionally with the child and are usually asymptomatic.

Risk of developing melanoma increases with:
=> large size
=> axial or paravertebral location 
=> multiple congenital satellite naevi 
=> neurocutaneous melanosis
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15
Q

What is café au lait?

A

Hyperpigmented skin patch with sharp border and diameter of >0.5cm present at birth or appears at early infancy and may darker in colour with sun exposure.

Most common in african americans

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16
Q

What causes café au lait?

A

The brown colour of a café-au-lait macule is due to melanin produced by melanocytes.

The epidermal melanocytes of an isolated café-au-lait macule have excessive numbers of melanosomes. This is known as epidermal melanotic hypermelanosis.

The café-au-lait macules associated with NF type 1 and Leopard syndrome have increased proliferation of epidermal melanocytes (epidermal melanocytic hyperplasia).

A café-au-lait macules is not classified as a congenital melanocytic naevus.

17
Q

What are the clinical features of café au lait macules?

Clinical diagnosis

A

=> light brown in colour

=> pigment is evenly distributed

=> well demarcated with a smooth or irregular border

=> round or oval in shape

18
Q

What is a congenital dermal melanocytosis (aka slate grey naevus / mongolian blue spot)?

Who does it affect?

Differential?

A

Melanocytes deep in dermis, usually over back/buttocks

Benign

More common in darker skins

Differential = bruising

*needs documentation its present

19
Q

Acrocyanosis:

Blue discolouration of digits / peripheries = normal finding in babies.

This reflects high haemoglobin (polycythaemia), which is normal baby physiology but sometimes it’s difficult to oxygenate all RBC, resulting in cyanosis.

A

INFO CARD

20
Q
  1. Erythema toxicum rash:

=> Widespread small pustules on a red base, not present at birth but appears in the first 72 hours.

=> Tends to get worse than resolve.

=> It looks dramatic but it’s common and benign.

  1. Transcient neonatal pustular melanosis

=> Vesicle/superficial pustules initially

=> Pigmented macules later on

=> Present from birth

=> Benign / idiopathic

=> Differential for erythema toxicum rash

A

Milia (aka milk spots)

=> Keratin-filled cysts, just under epidermis.

=> Benign + disappear within 2-4 weeks