Phys Written Answers · dermatological
Genodermatoses with Systemic Significance — Written Clinical Reasoning
DCE-style written reasoning for Genodermatoses with Systemic Significance.
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SAQ 1 — Integrated plan (12 marks)
Prompt: Provide a prioritised problem list and management sequence for this presentation. [1] [2]
Model Answer
1. Frame and red flags (3 marks) [1]
State the working diagnosis/syndrome, acuity, and what would force emergency treatment now. [1] [2]
2. Discriminating assessment (3 marks) [2]
List the key history, examination and investigations that separate dangerous differentials from benign mimics. [1] [2]
3. Treatment sequence (4 marks) [1]
Immediate stabilisation, disease-specific therapy, monitoring, and complications prevention. [1] [2]
4. Follow-up and communication (2 marks) [2]
Disposition, safety-net advice, and who owns follow-up. [1] [2]
References3ShowHide
- [1]Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med, 2021.PMID 34012067
- [2]Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol, 2021.PMID 34399110
- [3]McDonald J, Bayrak-Toydemir P, DeMille D, et al. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2). Genet Med, 2020.PMID 32300199