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Disease Profiles > Dermatology - Genetic Disease > Flashcards

Dermatology - Genetic Disease Flashcards

1
Q

Definition - Albinism

A

A genetic condition in which patients produce little/no melanin

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2
Q

Types - Albinism

A

Oculocutaneous (More common)
Ocular

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3
Q

Presentation - Albinism (Oculocutaneous)

A

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

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4
Q

Presentation - Albinism (Ocular)

A

Reduced eye colour
Many eye problems

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5
Q

Diagnosis - Albinism

A

Genetic testing

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6
Q

Management - Albinism

A

Genetic counselling
Skin examinations to check for cancer
Ophthalmology input

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7
Q

Inheritance - Albinism (Oculocutaneous)

A

Autosomal recessive

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8
Q

Inheritance - Albinism (Ocular)

A

X linked

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9
Q

Definition - Epidermolysis Bullosa

A

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

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10
Q

Presentation - Epidermolysis Bullosa

A

Recurrent blister formation from birth

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11
Q

Diagnosis - Epidermolysis Bullosa

A

Genetic tests
Skin biopsy

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12
Q

Management - Epidermolysis Bullosa

A

Symptomatic treatment and antibiotics as required

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13
Q

Types - Epidermolysis Bullosa

A

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

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14
Q

Definition - Neurofibromatosis 1

A

An inherited condition causing benign tumours to grow along nerves

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15
Q

Cause - Neurofibromatosis 1

A

Autosomal dominant inheritance of a mutation in the NF1 gene

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16
Q

Presentation - Neurofibromatosis 1 (Skin Changes)

A

Axillary/inguinal freckles
Cafe au Lait spots
Lish nodules
Neurofibromas

17
Q

Diagnosis - Neurofibromatosis 1

A

Clinical diagnosis
Genetic testing to confirm

18
Q

Management - Neurofibromatosis 1

A

Targeted therapy = MEK inhibitors
Surgery as required to remove tumours

19
Q

Cause - Tuberous Sclerosis

A

Autosomal dominant inheritance of a mutation in TSC1 or TSC2

20
Q

Presentation - Tuberous Sclerosis (Skin Changes)

A

Ash leaf macule
Shagreen patches
Adenoma sebaceum on the nose

20
Q

Presentation - Tuberous Sclerosis (Skin Changes)

A

Ash leaf macule
Shagreen patches
Adenoma sebaceum on the nose

21
Q

Definition - Xeroderma Pigmentosum

A

Genetic condition that causes individuals to be very sensitive to light

22
Q

Cause - Xeroderma Pigmentosum

A

Autosomal recessive inheritance of a mutation in the NER gene

23
Q

Presentation - Xeroderma Pigmentosum

A

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

24
Q

Diagnosis - Xeroderma Pigmentosum

A

Genetic testing

Disease Profiles (15 decks)

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