Dermatology - Genetic Disease

Question 1

Definition - Albinism

Answer 1

A genetic condition in which patients produce little/no melanin

Question 2

Types - Albinism

Answer 2

Oculocutaneous (More common)
Ocular

Question 3

Presentation - Albinism (Oculocutaneous)

Answer 3

Reduced colour of the skin, hair and eyes
Easy sunburn - may present with skin cancer
Eye problems

Question 4

Presentation - Albinism (Ocular)

Answer 4

Reduced eye colour
Many eye problems

Question 5

Diagnosis - Albinism

Answer 5

Genetic testing

Question 6

Management - Albinism

Answer 6

Genetic counselling
Skin examinations to check for cancer
Ophthalmology input

Question 7

Inheritance - Albinism (Oculocutaneous)

Answer 7

Autosomal recessive

Question 8

Inheritance - Albinism (Ocular)

Answer 8

X linked

Question 9

Definition - Epidermolysis Bullosa

Answer 9

Skin fragility condition characterised by blistering of the skin and mucous membranes

Question 10

Presentation - Epidermolysis Bullosa

Answer 10

Recurrent blister formation from birth

Question 11

Diagnosis - Epidermolysis Bullosa

Answer 11

Genetic tests
Skin biopsy

Question 12

Management - Epidermolysis Bullosa

Answer 12

Symptomatic treatment and antibiotics as required

Question 13

Types - Epidermolysis Bullosa

Answer 13

Simplex = epidermis (most common)
Junctional = DEJ
Dystrophic = dermis

Question 14

Definition - Neurofibromatosis 1

Answer 14

An inherited condition causing benign tumours to grow along nerves

Question 15

Cause - Neurofibromatosis 1

Answer 15

Autosomal dominant inheritance of a mutation in the NF1 gene

Question 16

Presentation - Neurofibromatosis 1 (Skin Changes)

Answer 16

Axillary/inguinal freckles
Cafe au Lait spots
Lish nodules
Neurofibromas

Question 17

Diagnosis - Neurofibromatosis 1

Answer 17

Clinical diagnosis
Genetic testing to confirm

Question 18

Management - Neurofibromatosis 1

Answer 18

Targeted therapy = MEK inhibitors
Surgery as required to remove tumours

Question 19

Cause - Tuberous Sclerosis

Answer 19

Autosomal dominant inheritance of a mutation in TSC1 or TSC2

Question 20

Presentation - Tuberous Sclerosis (Skin Changes)

Answer 20

Ash leaf macule
Shagreen patches
Adenoma sebaceum on the nose

Question 20

Presentation - Tuberous Sclerosis (Skin Changes)

Answer 20

Ash leaf macule
Shagreen patches
Adenoma sebaceum on the nose

Question 21

Definition - Xeroderma Pigmentosum

Answer 21

Genetic condition that causes individuals to be very sensitive to light

Question 22

Cause - Xeroderma Pigmentosum

Answer 22

Autosomal recessive inheritance of a mutation in the NER gene

Question 23

Presentation - Xeroderma Pigmentosum

Answer 23

Extreme photosensitivity = multiple skin cancers
Scaly, dry skin
Conjunctivitis
Nuerological degeneration

Question 24

Diagnosis - Xeroderma Pigmentosum

Answer 24

Genetic testing