Genetics of Derm

Question 1

Atopic dermatitis follows which inheritance pattern and what mutation is present

Answer 1

• autosomal dominant
• loff of function in the gene that codes for the filaggrin protein

Question 2

Familial atypical mole aka melanoma syndrome

Answer 2

• presence of multiple atypical moles and melanome in 2 or more 1st degree relatives
• makes people 25x more likely to have melanoma

Question 3

Neurofibromatosis type 1

Answer 3

• Autosomal dominant
• mutation on chrosome 17
• neurofibromin = altered protein that leads to increased ras protein and the loss of cell cycle control
• benign tumors
• cafe au lait spots
• skin fold frecling
• Lisch nodules ( nodules on the iris)

Question 4

Xeroderma pigmentosum

Answer 4

• inherited condition that leads to extreme sensitivity to UV rays
• increases risk of skin cancer
• mutations in the genes that repair damaged DNA, especially from UV rays and toxic chemicals found in tobacco smoke
• autosomal recessive pattern

Question 5

Tuberous Sclerosis Complex

Answer 5

• autosomal dominant
• growth of lots of benign tumors
• unusually light colored skin, areas of raised thickened skin and growth under the nails
  *

Question 6

Graft vs. Host disease

Answer 6

• when graft cells are able to overcome the host cells by producing more immune cells than the host
  
  • causes problem with T-cell immune responses and natural killer cells
  • leads to problems with the host
• HLA genes

Question 8

Nevoid Basal Cell Carcinoma

Answer 8

aka Gorlin Syndrome

• predisposition to have basal cell carcinoma
• Autosomal dominant pattern
• sporadic new cases due to mutations are common

Question 9

Epidermolysis bullosa

Answer 9

• inherited disorder where the skin is very fragile and the epidermal layer separates from the body
• **any trauma or friction to the skin causes painful blisters**
• recessive dystrophic epidermolysis bullosa = recessive inheritance (LOW SURVIVAL)
• dominant dystrophic epidermolysis bullosa = s/sxs tend to be milder than the recessive form with blistering usually only on the hands, feet, knees, and elbows. **(MORE MILD)**