Genetic skin disease

Question 1

If this clinical sign was combined with a history of seizures in childhood, what diagnosis would you suspect?

Answer 1

Tuberous sclerosis

Question 2

What other signs are seen in tuberous sclerosis?

Answer 2

“Ashleaf macules”- depigmented patches

Angiofibroma

Enamel pitting

Question 3

Describe the inheritance of tuberous sclerosis.

Answer 3

Autosomal dominant but de novo mutations common

Genetically heterogenous- mutation may be in TSC1 or TSC2

Variable expressivity

Question 4

What diagnosis might be suggested by extensive post-natal skin blistering and skin loss?

Answer 4

Epidermolysis bullosa

Question 5

What are the three main types of epidermolysis bullosa?

Answer 5

Simpex

Junctional

Dystrophic

Question 6

What two clinical signs are seen here and what diagnosis does this suggest?

Answer 6

Cafe au lait patches, neurofibromas

Neurofibromatosis

Question 7

Why is atopic eczema referred to as a complex trait?

Answer 7

Several genetic and environmental influences on disease progression

Question 8

Loss of function mutations in which gene involved in barrier function are a major predisposing factor for developing atopic eczema?

Answer 8

Filaggrin- a filament aggregating protein