Genetics in Dermatology

Question 1

Genodermatoses

Answer 1

Inherited genetic skin conditions

Question 2

What is the earliest cutaneous sign of Tuberose sclerosis?

Answer 2

Depigmented ‘ash leaf’ macule

Question 3

Tuberose Sclerosis

Answer 3

A genetic disorder that is characterised by hamartomas in many organs, but particularly the skin, brain, eye, kidney and heart. (Hamartomas are non-cancerous malformations composed of overgrowth of the cells and tissues that normally occur in the affected area and include navei)

Question 4

Which genes are involved in Tuberose Sclerosis?

Answer 4

It is a multi-gene disorder: TSC1 and TSC2 - Code for tuberin and hamartin (tumour regulating genes)

Question 5

Heterogeneity

Answer 5

Different genes can cause the clinical appearance

Question 6

Epidermolysis Bullosa (EB)

Answer 6

A group of genetic skin fragility conditions characterised by blistering lesions on the skin and mucous membranes

Question 7

What are the 3 types of EB?

Answer 7

Simplex, Junctional and Dystrophic

Question 8

Which genes are involved in EB?

Answer 8

> 20 genes associated with skin structure and adhesion

Question 9

What characterises Neurofibromatosis type 1?

Answer 9

6 or more cade au lait macule and neurofibromas (tumours on, under, or hanging off the skin)

Question 10

Which protein is involved in Neurofibromatosis Type1?

Answer 10

Neurofibromine

Question 11

Which factors in atopic eczema are under genetic control?

Answer 11

Skin barrier function - Filaggrin, and immunology - IL-4/IL-3

Question 12

What role does Filaggrin gene play and what occurs with its mutation?

Answer 12

Skin barrier function, mutation causes ichthyosis vulgarise - a skin condition that causes dry, dead skin cells to accumulate in patches on the surface of your skin.