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Flashcards in Genetics Deck (22):
1

Hamartomas are very characteristic of which condition?

Tuberose sclerosis

2

How might tuberose sclerosis present?

Infantile seizures

3

Tuberose sclerosis method of inheritance?

Autosomal dominant but new mutations are common

4

Ash leaf macule?

Tuberose sclerosis

5

Facial angiofibromas?

Tuberose sclerosis
-Develop in the first few years of life

6

Shagreen patches and enamel pitting?

Tuberose sclerosis

7

Mutations in TSC1 or TSC2?

Tuberose sclerosis

8

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

Epidermolysis bullosa

9

Types of epidermolysis bullosa?

Simplex
Junctional
Dystrophic

10

Eye disease you might see in NF type 1?

Optic glioma

11

Filaggrin, interleukin 4, interleukin 13

Eczema

12

Mutations in filaggrin increase risks of what?

Eczema
Asthma
Hayfever
Peanut allergy

13

Photobiology

The study of non-ionising radiation on living systems

14

Triad of tuberose sclerosis?

Mental retardation
Seizures
Facial angiofibromas

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

15

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

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

16

NF type 1

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

17

Diagnosis of NF type 2

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.

18

Mutations in filaggrin increase your risks of what?

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

19

Ichthyosis vulgaris

Mutation in filaggrin
- "fish scale" disease --> makes your skin look like fish scales

20

Mental retardation
Epilepsy
Cutaneous features

Tuberose sclerosis

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

Tuberose sclerosis

22

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

Kallmann's syndrome!!