Skin

Question 1

Tuberous sclerosis

Answer 1

May be a patinet with rash, headache and seizures

Pathology- Inhertied in AD fasion but often occurs sporadically Defect in chromosome 9 and 16
Is a neurocuteanous syndrome resulting in hamartoma formation in a range of tissues
Includes; eyes, skin, brain, spine, lungs, liver, bone

Features include; learning difficulties (50%), Epilepsy, and association with cystic renal disease

On examination- Hands have perinungal fibroma
Arm- HTN and AV fistula
Face- ADENOMA SEBACEUM aka wide spread angiofribeomas across face in butterfly pattern
Mouth-Intraoral fibromata
Chest and Back- Shagreen patches- skin colour raised plaque on lower back
Hypopigmented macules (Fluroesce under wood’s lamp)
Cafe au lait spots

Resp- cystic lung disease
Abdomen- PCKD and angiomyolimpoas. May have signs of end stage renal disease
Eyes- renal hartoma.

Neuro- may have residual neurology.

Managment- MDT for respective issues