Paediatric Dermatology

Question 1

What are salmon patches?

Answer 1

Vascular birthmarks believed to be due to persistent foetal circulation rather than a malformation

Question 2

How common are salmon patches?

Answer 2

Common - up to 50% of new borns

Question 3

Where do salmon patches typically present?

Answer 3

Facial - eyelids, forehead, nose

Nuchal

Question 4

Are facial or nuchal salmon patches more persistent?

Answer 4

Nuchal (salmon patches tend to resolve but 10% nuchal salmon patches are present in 10% of adults)

Question 5

What are facial salmon patches also known as?

Answer 5

Angel’s kisses

Question 6

What are nuchal salmon patches also known as?

Answer 6

Stork marks

Question 7

What are the 2 types of vascular birthmarks?

Answer 7

Vascular malformation

Haemangioma

Question 8

Does vascular malformation resolve?

Answer 8

No - may progress

Question 9

Do haemangiomas resolve?

Answer 9

Yes - most will regress and disappear to some extent

Question 10

What is an haemangioma?

Answer 10

Vascular tumours confined to children

Question 11

What is the most common vascular malformation?

Answer 11

Port-wine stains (Naevus flammeus)

Question 12

Do port wine stains regress?

Answer 12

No - they persist for life

Question 13

On the face PWS are described with references to which nerve?

Answer 13

Trigeminal (CN V)

Question 14

What is Sturge Weber Syndrome?

Answer 14

A neurological disorder consisting of PWS of the ophthalmic region of the trigeminal nerve and ipsilateral vascular malformation of the brain

Question 15

What are the complications Sturge Weber Syndrome?

Answer 15

Seizures - common (20% of V1 PWS)
Intellectual impairment
Hemi-paresis
Glaucoma - up to 45% (especially if upper and lower eyelids involved)

Question 16

What are the triad of classical features in Klippel-Trenauney Syndrome?

Answer 16

1. Port wine stain (usually on the limb)
2. CMV (capillary venous malformation) and CLVM (capillary lymphatic venous malformation)
3. Soft tissue hypertrophy of affected limb

Question 17

What is the commonest vascular tumour which occurs in childhood?

Answer 17

Infantile haemangioma (Strawberry naevus)

Question 18

When do most infantile haemangiomas appear?

Answer 18

90% appear within the first month

Question 19

Where do infantile haemangiomas most commonly present?

Answer 19

Head and neck

Question 20

What are the complications of infantile haemangiomas?

Answer 20

Bleeding
Ulceration
Infection
Pain

Question 21

What is the treatment of peri-ocular lesions?

Answer 21

Topical propranolol (may also require intralesional steroid)
Prednisolone may be required if good improvement is not made

Question 22

If spina bifida is suspected was investigation should be performed?

Answer 22

Ultrasound

Question 23

If an infant is prescribed propranolol what kind of screening and monitoring is required?

Answer 23

Glucose and cardiac screening with regular monitoring of pulse and blood pressure

Question 24

A melanocytes naves is most commonly called what?

Answer 24

A mole

Question 25

Congenital melanocytic naevi have a 4 fold increased risk of developing what?

Answer 25

Melanoma (higher for large lesions)

Question 26

What are the sizes of a small, medium and large congenital melanocytic naevi?

Answer 26

Small - up to 5cm Medium - between 5-20cm Large - over 20cm

Question 27

What is the commonest genodermatosis?

Answer 27

Neurofibromatosis (NF Type 1)

Question 28

Is NF type 1 autosomal dominant of recessive?

Answer 28

Dominant: variable penetrance. Ch 17

Question 29

What is the pathophysiology or NF type 1?

Answer 29

Defect in amino acid which inactivates oncogenes

Question 30

What is present in 90% of NF type 1 patients?

Answer 30

Café au lait macules (CALMS)

Question 31

Along with CALMS, what is the other cutaneous lesion associated with NF type 1?

Answer 31

Neurofibroma

Question 32

What is the minimal diagnostic criteria for NF1?

Answer 32

Two or more: - 6 or more CALMS > 5 mm prepuberty or > 1.5cm adults - 2 or more Neurofibromas or 1 plexiform neuroma - Axillary (Crowe's sign) or inguinal freckling - Optic glioma - 2 or more Lisch nodules - A distinctive bony lesion e.g. sphenoid dysplasia - A first-degree relative with NF1

Question 33

What is an ash leaf macule?

Answer 33

Oval shaped area of hypopigmentation, synonymous with Tuberous sclerosis

Question 34

What is the second most common genodermatosis after NF 1?

Answer 34

Tuberous sclerosis

Question 35

What neurological symptoms may be present in tuberous sclerosis?

Answer 35

Seizures Intellectual disability Developmental delay Behavioral problems

Question 36

What is the earliest sign of tuberous sclerosis?

Answer 36

Ash leaf macule

Question 37

Is tuberous sclerosis autosomal dominant or recessive?

Answer 37

Dominat: 9q34 or 16p13.3

Question 38

What is the pathophysiology of tuberous sclerosis?

Answer 38

Abnormalities in cell cycle regulation genes | allowing hamartoma development

Question 39

What are the potential features of tuberous sclerosis?

Answer 39

1. Depigmented macules (90%) 2. CALMS in 25% 3. Seizures: Cortical tuber, calcification of falx cerebra 4. Facial angiofibromas (adenoma sebaceum) 5. Periungual fibromas 6. Shagreen patches (seen in 50%) 7. Fibrous forehead plaques 8. Enamel pitting 9. Hamartomas / angiomyolipomas: Heart, lung kidneys 10. Bone cysts