On this page
Study tools
Prompt
Write your answer
Saved on this device. No marking — you are the marker.
Stem
You run a dermatogenetics clinic. Families present with: (1) collodion baby history and lifelong scale; (2) trauma-induced blisters from birth; (3) extreme sunburn and freckling by age 2 with a childhood skin cancer; (4) sparse hair, heat intolerance and conical teeth.
Questions
a) Assign each presentation to a mechanistic genodermatosis group and name one exemplar gene/pathway. (3 marks)
b) What clinical clues in the history and examination raise suspicion for a genodermatosis generally? (2 marks)
c) Outline a rational genetic testing and counselling approach. (3 marks)
d) State two group-specific surveillance or emergency priorities. (2 marks)
Model outline
- a) Ichthyosis/EDD (e.g. TGM1/FLG/ABCA12); EB (KRT5/14, LAMB3, COL7A1); XP (XPA–G/POLH); hypohidrotic ED (EDA pathway).
- b) Early onset, family/consanguinity, multi-system, photosensitivity, fragility, patterned lesions.
- c) Phenotype group → targeted panel/exome → interpret with genetics → cascade/prenatal counselling; consider mosaicism.
- d) Examples: XP photoprotection + cancer surveillance; EB infection/fluid care; TSC seizure/renal; ED heat illness prevention.