1
Q
How is TS inherited?
A
Autosomal dominant
2
Q
What systems are mostly affected by TS?
A
Neurological and skin
Hence Neurocutaneous
3
Q
What are some of the cutaneous features of TS?
A
- Depigmented ‘ash-leaf’ spots which fluoresce under UV light
- Roughened patches of skin over lumbar spine (Shagreen patches)
- Adenoma sebaceum: butterfly distribution over nose
- fibromata beneath nails (subungual fibromata)
- cafe-au-lait spots may be seen
4
Q
What is this?
A
An ash leaf spot
5
Q
What is this?
A
An ash leaf spot
6
Q
What is this?
A
A Shagreen patch
7
Q
What is this?
A
adenoma sebaceum
8
Q
What is this?
A
A Subungual Fibromata
9
Q
What is this?
A
A cafe au lait spot
10
Q
In what other condition are cafe-au-lait spots seen?
A
Neurofibromatosis
Genetics
flashcards
Decks in class (25)
# Cards
-
Inherited Conditions38
-
Sickle Cell Crisis11
-
Cystic Fibrosis8
-
Down Syndrome: Features3
-
Haemochromatosis12
-
Tuberous Sclerosis10
-
Down's Syndrome: Epidemiology and Genetics9
-
Wilson's Disease8
-
Down's Syndrome: Vision and Hearing Problems2
-
Hereditary Haemorrhagic Telangiectasia4
-
Haemophilia7
-
Hereditary Spherocytosis8
-
Familial Hypercholesterolaemia8
-
Down's syndrome: Antenatal Testing5
-
G6PD Deficiency9
-
Peutz-Jeghers Syndrome8
-
Turner's Syndrome4
-
Long QT Syndrome14
-
Degrees of Relation3
-
Alpha Feto-Protein2
-
Retinoblastoma6
-
Porphyria Cutanea Tarda6
-
Gaucher's Disease4
-
Primary Ciliary Dyskinesia4
-
Bartter's Syndrome7
