Systemic Disease

Question 1

What is EB and what causes it?

Answer 1

Epidermolysis Bullosa

Inherited disorders that cause blister formation in response to mechanical trauma

Many genes affected, which determine type

Question 2

What are the 3 main EB variants?

Answer 2

Simplex-
usually has little to no extracutaneous involvement, decent healing potential

Dystrophic-
Junctional-
More severe, can affect organs and have more systemic effects

Question 3

How is EB investigated and treated?

Answer 3

Biopsy- to find what level of skin it affects as this is what determines type

Treated conservatively/supportively, ie-
Wound care and dressings
Analgesia
Etc

Question 4

What is tuberous sclerosis?

Answer 4

Benign tumours in various organ systems of body
Autosomal dominant, or spontaneous mutation

Question 5

What causes tuberous sclerosis?

Answer 5

Many mutations, affecting TSC1 or TSC2 genes
These genes code for hamartin and tuberin, which regulate cell growth and division

Question 6

How does tuberous sclerosis present?

Answer 6

Depends on severity

Infantile seizures and developmental disorders
Ash leaf macules- white patches
Shagreen patches- thick pebbly skin, often on lower back

Tumours around nails, on face, and of heart, kidneys, lungs, and eyes
Bone cysts

Question 7

What is neurofibromatosis type 1, and what causes it?

Answer 7

Mutation in NF1 gene -> tumours along nervous system

Question 8

How does NFT1 present?

Answer 8

• Cafe au lait macules
• Neurofibromas
• Plexiform neuroma- found on peripheral nerve sheath
• Axillary/inguinal freckling
• Optic gliomas
• 2 or more Lisch nodules- growths in the Iris
• Distinctive bony lesions