Genetics

Question 1

Hamartomas are very characteristic of which condition?

Answer 1

Tuberose sclerosis

Question 2

How might tuberose sclerosis present?

Answer 2

Infantile seizures

Question 3

Tuberose sclerosis method of inheritance?

Answer 3

Autosomal dominant but new mutations are common

Question 4

Ash leaf macule?

Answer 4

Tuberose sclerosis

Question 5

Facial angiofibromas?

Answer 5

Tuberose sclerosis

-Develop in the first few years of life

Question 6

Shagreen patches and enamel pitting?

Answer 6

Tuberose sclerosis

Question 7

Mutations in TSC1 or TSC2?

Answer 7

Tuberose sclerosis

Question 8

Keratin 5, Keratin 14, Laminins, Integrins, Collagen 17

Answer 8

Epidermolysis bullosa

Question 9

Types of epidermolysis bullosa?

Answer 9

Simplex
Junctional
Dystrophic

Question 10

Eye disease you might see in NF type 1?

Answer 10

Optic glioma

Question 11

Filaggrin, interleukin 4, interleukin 13

Answer 11

Eczema

Question 12

Mutations in filaggrin increase risks of what?

Answer 12

Eczema
Asthma
Hayfever
Peanut allergy

Question 13

Photobiology

Answer 13

The study of non-ionising radiation on living systems

Question 14

Triad of tuberose sclerosis?

Answer 14

Mental retardation
Seizures
Facial angiofibromas

(BUT remember nail involvement and the fact that this condition is because of TUMOURS growing everywhere!)

Question 15

What do TSC -1 and TSC-2 code for?

Answer 15

Tuberin and hamartin (tumour suppressors or something I think). This would explain tumour formation seen in tuberose sclerosis

Question 16

NF type 1

Answer 16

Café au lait
Neurofibromas
Plexiform neuroma - diffuse
Axillary or inguinal freckling
Optic glioma
2 or more Lisch nodules
A distinctive bony lesion

Question 17

Diagnosis of NF type 2

Answer 17

Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios[1] :

Bilateral vestibular schwannomas
A first degree relative with NF2 AND
Unilateral vestibular schwannoma OR
Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
Unilateral vestibular schwannoma AND
Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
Multiple meningiomas AND
Unilateral vestibular schwannoma OR
Any two of: schwannoma, glioma, neurofibroma, cataract
However, because approximately half of cases result from new mutations, family history is often negative.

Question 18

Mutations in filaggrin increase your risks of what?

Answer 18

Increases risk of eczema 4X
Increases risk of asthma and hay fever ≈3X
Increases risk of peanut allergy 5X

Question 19

Ichthyosis vulgaris

Answer 19

Mutation in filaggrin

- “fish scale” disease –> makes your skin look like fish scales

Question 20

Mental retardation
Epilepsy
Cutaneous features

Answer 20

Tuberose sclerosis

Question 21

The skin signs include adenoma sebaceum (reddish papules around the nose)
Periungal fibroma
Shagreen patches
Ash-leaf hypopigmentation
Cafe au lait patches
There may be pitting of dental enamel

Answer 21

Tuberose sclerosis

Question 22

DEFICIENCY OF GnRH
No sense of smell (anosmia)
Colour blindness
Cleft palate
Renal abnormalities

Answer 22

Kallmann’s syndrome!!