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Dermatology week 2 > Paediatric dermatology > Flashcards

Paediatric dermatology Flashcards

1
Q

Define what a birthmark is

A

This is an unusual, typically permanent, mark on someone’s body which is there from birth.

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2
Q

What is the importance of birthmarks?

A
  • They may be a target for unkind comments
  • & for medical staff they may suggest underlying problems and target further investigations
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3
Q

What are the 2 main groups of birthmarks ?

A
  1. Vascular
  2. Pigmented
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4
Q

What is a genodermatose?

A

It means the condition is an inherited dermatological disorder

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5
Q

What are the 2 main genodermatoses ?

A
  1. Neurofibromatosis
  2. Tuberous sclerosis
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6
Q

What are the 2 main groups of vascular birthmarks ?

A
  1. Capillary vascular malformations
  2. Haemangiomas
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7
Q

What are capillary vascular malformations ?

A
  • These are congenital (present from birth) malformed dilated blood vessels in the skin.
  • They appear as blotches of red or purple skin discolouration on any part of the body.
  • They grow in proportion to the childs body
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8
Q

What are the 2 main capillary vascular malformations (vascular birthmarks) ?

A
  1. Salmon patches (naevus simplex)
  2. Port-wine stains (naevus flammeus).
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9
Q

What are the clinical features of salmon patches ?

A
  • Small flat patches of pink or red skin with poorly defined borders.
  • They are commonly found at the nape of the neck (stork bite, erythema nuchae), on the forehead between the eyebrows (angel’s kiss) or on the eyelids.
  • They become more intense in colour and noticeable when the child is crying
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10
Q

How common are salmon patches ?

A

Very - occur in about 40% of all newborns

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11
Q

As time progresses what happens to salmon patches ?

A

Most lesions will spontaneously dissapear within the 1st year of life

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12
Q

What is the treatment of salmon patches ?

A

No treatment needed

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13
Q

What are the clinical features of port-wine stains ?

A
  • A large flat patch of purple or dark red skin with well-defined borders.
  • Tend to be unilateral
  • In time it becomes bumpy and often more unsightly. The face is most commonly affected although they can occur anywhere on the body.
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14
Q

As time progresses what happens to port-wine stains ?

A
  • Most remain unchanged or may even deepen in colour.

Hint- think of jorge to remember this condition

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15
Q

What is the treatment of port-wine stains ?

A

Cosmetic camouflage or laser therapy (multiple sessions are required).

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16
Q

Most capillary vascular naevi are not associated with other abnormalities. However, there are some rare syndromes that may present with this kind of birthmark, what are the 2 main ones to know about ?

A
  1. Sturge Weber Syndrome
  2. Klippel-Trenauney syndrome
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17
Q

What is sturge-weber syndrome ?

A

It is the association of capillary vascular malformation affecting the skin supplied by one branch of the trigeminal nerve of the face with defects in the underlying tissues.

This syndrome may result in:

  • Seizures
  • Intellectual impairment
  • Hemi-paresis
  • Eye abnormalities (glaucoma, optic atrophy) which can result in blindness
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18
Q

What is Klippel-Trenauney syndrome ?

A
  • This refers to the association of a capillary vascular malformation with a venous and a lymphatic malformation.
  • The lymphatic malformation can contain large fluid-filled cysts (macrocystic) or clusters of smaller ones (microcystic).
  • The affected limb is wider and bulkier than the other side.
  • This syndrome can become complicated by blood clots, seepage of lymph, infections (cellulitis), ulceration & bleeding
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19
Q

What is an infantile haemangioma ?

A

More commonly known as a strawberry naevus is benign (non-cancerous) tumour of soft tissue affecting cutaneous blood vessles.

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20
Q

What are the 3 main types of infantile haemangioma ?

A
  1. Superficial also called capillary haemangioma - the blood vessels in uppermost layers of the skin are dilated.
  2. Deep also called cavernous haemangiomas and are more deeply set in the dermis and subcutis. They appear as a bluish soft to firm swelling.
  3. Mixed type - when a superficial haemangioma overlies a bluish swelling.
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21
Q

What are the clinical features of infantile haemangiomas ?

A
  • They appear as erythematous, raised and multilobed tumours.
  • They are usually not present at birth but rapidly develop in the 1st month of life
  • Typically they increase in size until around 6-9 months before regressing over the next few years (around 95% resolve before 10 years of age).
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22
Q

Where do infantile haemangiomas usually arise on the body ?

A
  • The face, scalp and back.
  • Rarely they may be present in the upper respiratory tract leading to potential airway obstruction
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23
Q

What complications can develop as a result of an infantile haemangioma ?

A
  • Mechanical e.g. Obstructing visual fields or airway
  • Bleeding
  • Ulceration
  • Thrombocytopaenia
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24
Q

If an infantile haemangioma develops over the spinal cord what condition should you be worried about and therefore what investigation should be done ?

A
  • Potentially indicates spina bifida/ cord tethering lumbosacral area
  • Do an ultrasound to rule out
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25
Q

What is the treatment of infantile haemangiomas if required e.g. if airway obstruction or visual field obstruction?

A

1st line = oral propanolol +/- oral, topical or intralesions steroids

26
Q

List the main pigmented birth marks to know about

A
  1. Mongolian-blue spots
  2. Congenital melanocytic naevi
  3. Cafe au lait macules (CALMS)
27
Q

What are the clinical features of a mongolian blue spot?

A
  • Also called a Lumbosacral dermal melanocytosis, it is a common birthmark.
  • It presents as bluish-grey patches on the lower back or buttocks.
  • The patches are usually a few centimetres in diameter but larger ones may occur.
  • The affected skin is not thickened or changed in any way other than in colour.
28
Q

What is shown in the pic ?

A

A mongolian blue spot

29
Q

In whom is mongolian blue spots more common ?

A

Black & Asians

30
Q

Do Mongolian blue spots require any treatment ?

A

No treatment - usually dissapears by 4 years old

31
Q

What is a congenital melanocytic naevus ?

A

A proliferation of benign melanocytes that are present at birth or develop shortly after birth

32
Q

How are congenital melanocytic naevus classified ?

A

By size:

  • Small - up to 5cm
  • Medium - between 5-20cm
  • Large > 20cm
33
Q

What are the clinical features of a melanocytic naevus ?

A
  • Congenital melanocytic naevi present as single or multi-shaded, round or oval-shaped pigmented patches.
  • They may have increased hair growth (hypertrichosis).
  • The surface may be slightly rough or bumpy. Around the time of puberty they may also become darker, raised, more bumpy and hairy.
34
Q

What is a Garment or Bathing Trunk Naevus ?

A

This is a congenital melanocytic naevus affecting central areas usually covered by a bathing costume, for example, buttocks

35
Q

What is the risk of congenital melanocytic naevus and what does this risk increase with ?

A

There is an increased risk of developing melanoma (around a 4x increased risk but this is still well below 1%) - this risk increases as the size increases with larger lesions possibly having a risk fo upto 30%

36
Q

What is the treatment of congenital melanocytic naevi?

A

Surgical removal either when melanoma develops or prophylatically when they are old enough to tolerate local anaesthesia

37
Q

What is a cafe au lait macule (CALM)?

A

A common birthmark, presenting as a hyperpigmented skin patch

38
Q

What are the clinical features of a cafe au lait macule (CALM)?

A
  • Are light brown in colour.
  • The pigment is evenly distributed.
  • They are well demarcated with a smooth or irregular border
  • Their shape is either round or oval.
39
Q

Who gets cafe au lait macules ?

A
  • They may be isolated or associated with neuroectodermal disease esp Neurofibromatosis (NF)
  • > 3 in a caucasian should lead to systemic evaluation
40
Q

What is neurofibromatosis ?

A

A genetic disorder that affects the bone, soft tissue, skin and nervous system.

41
Q

What are the 2 main types of neurofibromatosis ?

A
  1. Neurofibromatosis 1 (NF1)
  2. Neurofibromatosis 2 (NF2).
42
Q

What is the mode of inheritance of both types of neurofibromatosis ?

A

Autosomal dominant

43
Q

What specific mutations result in neurofibromatosis type 1 and type 2

A
  • NF1 is caused by a gene mutation on chromosome 17 which encodes neurofibromin
  • NF2 is caused by gene mutation on chromosome 22
44
Q

What are the clinical features of NF1 ?

A
  • CALMS (individuals with > 5 prepuberty are at increased risk)
  • Crowes sign
  • Lisch nodules
  • Peripheral Neurofibromas

Additional features may include:

  • Malformation of the long bones & scoliosis
  • Short stature and growth hormone deficiency
  • Learning difficulties and behavioural problems
  • Tumours on the optic nerve; these can cause visual loss
  • High blood pressure and other blood problems
  • Tumours on the spine and brain; these increase risk of epilepsy
  • Tumours or lesions on the gastrointestinal tract that may cause bleeding or obstruction
  • Hearing defects.
45
Q

What clinical feature is shown in the pic and what condition is it associated with ?

A

NF1 - crowes sign shown which is freckling in the armpit

46
Q

What are lisch nodules and what condition are they associated with ?

A
  • They are tiny tumours on the iris of the eye.
  • They are associated with NF1
47
Q

What are neurofibromas and what are the 3 types of them?

A

These are tumours (growths) composed of schwann cells, fibroblasts, mast cells etc

There are 3 types:

  1. Cutaneous neurofibromas are circumscribed, superficial, soft button-like brown, pink, or skin coloured superficial nodules with soft or firm consistency
  2. Subcutaneous neurofibromas are similar to cutaneous neurofibromas except deeper in origin
  3. Plexiform neurofibromas present as bag-like masses within the skin.
48
Q

What is the diagnostic criteria for NF1?

A

Two or more of the following:

  • ≥ 6 CALMS > 5 mm prepuberty or > 1.5cm adults
  • ≥ 2 Neurofibromas or 1 plexiform neuroma
  • Axillary or inguinal freckling
  • Optic glioma
  • ≥ 2 Lisch nodules
  • A distinctive bony lesion e.g. sphenoid dysplasia
  • A first-degree relative with NF1
49
Q

What are the clinical features of NF2 ?

A
  • NF2 does not have as many outwardly signs as NF1.
  • It is characterised by multiple tumours and lesions on the brain and spinal cord. (Bilateral vestibular schwannomas
  • Multiple intracranial schwannomas, mengiomas and ependymomas)
  • The first symptom is usually hearing loss due to a tumour growing on one or both auditory nerves. Often this is not apparent until the late teens or early 20’s.
50
Q

What is the treatment of neurofibromatosis ?

A

There is no cure

51
Q

CALMS are linked more with which type of neurofibromatosis ?

A

NF1

52
Q

What is tuberous sclerosis ?

A
  • A genetic disorder that is characterised by hamartomas in many organs, but particularly the skin, brain, eye, kidney and heart.
  • It is present from birth, although it may not cause obvious problems immediately.
53
Q

What is a hamartoma ?

A

A benign (not cancer) growth made up of an abnormal mixture of cells and tissues normally found in the area of the body where the growth occurs.

54
Q

What is the inheritance of tuberous sclerosis ?

A

Autosomal dominant

55
Q

What mutations cause tuberous sclerosis ?

A

It is due to a mutation of one of the following two genes:

  1. TSC1, which produces a protein called hamartin (10–30% of cases)
  2. TSC2, which produces a protein called tuberin
56
Q

What are the clinical features of tuberous sclerosis ?

A

Skin signs:

  • Angiofibromas
  • Ungual fibromas
  • Shagreen patches
  • Ash-leaf macules

Neurological signs:

  • Epilepsy
  • Developmental delay & behaviour problems
  • Intellectual impairment

Other signs:

  • Retinal hamartomas: dense white areas on retina (phakomata)
  • Rhabdomyomas of the heart
  • Gliomatous changes can occur in the brain lesions
  • Polycystic kidneys, renal angiomyolipomata
  • Lymphangioleiomyomatosis: multiple lung cysts
57
Q

What is usually the earliest sign of tuberous sclerosis ?

A

Ash-leaf macule

58
Q

What is the most characteristic feature of tuberous sclerosis ?

A

Ash-leaf macules

59
Q

Describe the appearance of an ash leaf macule

A

Ovoid or ash leaf-shaped white macules

60
Q

Describe the appearance of shagreen patches

A

Flesh coloured orange-peel connective tissue naevi of varying sizes, usually on the lower back

61
Q

Describe the appearance of (peri)ungual fibromas

A
  • Smooth, firm, flesh-coloured lumps that emerge from the nail folds
  • Periungual sites (around the nail) are more common than subungual sites (under the nail)
  • May also be associated with longitudinal ridging, splinter haemorrhages or leukonychia
62
Q

Describe the appearance of angiofibromas

A
  • Facial rash that appears as a spread of small pink or red spots across the cheeks and nose in a butterfly distribution
  • Usually appear between 3-10 years of age and increase in size and number until adolescence

Dermatology week 2 (22 decks)

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