259. Genetic Disease Update

Question 1

Ichthyosis

Cause, Association

Answer 1

Defects in filaggrin - needed to keep skin hydrated

Assoc with Atopic Dermatitis

Question 2

Epidermolysis Bullosa Simplex

Cause, Signs

Answer 2

Defects in Keratin 5/14

Blistering at young age due to cleavage of basal layer keratinocytes from eathother

Question 3

Neurofibromatosis

Cause, Findings

Answer 3

Deletion of neurofibromin gene (tumor suppressor) = Ras activation

Multiple cafe-au-lait spots, lisch nodules on iris