Netherton syndrome

Question 1

Netherton syndrome mental sketch:

Answer 1

• Picture a neanderthal with bamboo hair (Trichorrhexis invaginata) who has shedding snakes on his skin in a annular or serpiginous fashion with double-edged scale. (ichthyosis linearis circumflexa)
• The neanderthal has a thermometer in his mouth (neonatal temperature instability) and is chugging water (electrolyte imbalance, hyponatremia)
• Next to the neanderthal is a Skunk named SPINK5 who is offering peanuts to the neanderthal, who refuses because he has Atopy, increased food and other allergies.

Question 2

Inheritance of Netherton syndrome:

Answer 2

• Autosomal Recessive

- think: neanderthals are autosomal recessive, which is why their population did not grow

Question 3

Do not give _____ or _____ medications to netherton syndrome patients. Why not?

Answer 3

• Tacrolimus (topical calcineurin inhibitors), or keratolytics
• tacrolimus can accumulate in toxic amounts in body due to poor skin barrier, and keratolytics are too irritating.