Skin devo and disorders

Question 1

ectodermal dysplasia

• developmental defects in what tissues?
• most common form?

Answer 1

• hair, teeth, nails, sweat glands, eye lens
• HED (hypohidrotic ectodermal dysplasia)

Question 2

Waardenburg syndrome

-clinical findings

Answer 2

• abnormal development of melanocytes:
• white patches of skin/hair
• Deafness
• 2-colored irises
• wide distance between eyes

Question 2

port-wine stain

• what is it
• what to worry about

Answer 2

• congenital dermal capillary malformation, follows dermatomes
• If on V1, check for Sturge-Weber syndrome–may have neurological and ocular defects!

Question 3

PHACE syndrome

Answer 3

• suspect this if you see large facial hemangioma in baby
  1. posterior fossa abnormalities
  2. hemangioma
  3. arterial anomalies
  4. cardiac anomalies
  5. eye anomalies
  6. sternal clefting

Question 4

Hypohidrotric ectodermal dysplasia (HED)

Answer 4

• baby with funny “HED”
• square head, sparse hair, peg teeth, low ears
• can’t sweat! Risk for heat stroke.

Question 5

Sturge-Weber syndrome

Answer 5

• congenital syndrome:
  1. V1 dermatome facial port-wine stain (if you see this, screen for Sturge-Weber)
  2. neurological defects
  3. ocular defects

Question 7

Piebaldism

Answer 7

• loss of pigmentation, congenital
• white forelock
• mutation of KIT oncogene (Tyr kinase defect means abnormal melanocyte distribution/migration)
• don’t confuse with vitiligo

Question 8

infantile hemangioma

• what is it
• what to worry about

Answer 8

• benign vascular tumor, congenital
• may grow and the shrink
• if large facial, think: PHACE syndrome