Phys Clinical Cases · dermatological
Genodermatoses with Systemic Significance — DCE Clinical Case
DCE long-case and short-case station for Genodermatoses with Systemic Significance.
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Genodermatoses with Systemic Significance — Clinical Case
DCE Long Case
Patient brief
Patient: A middle-aged or older adult with multimorbidity and a presentation centred on Genodermatoses with Systemic Significance. [1]
Presenting complaint: Subacute or acute symptoms referable to Genodermatoses with Systemic Significance, with enough detail to force prioritisation. [1] [2]
Past history: Common cardiometabolic and organ comorbidities that interact with the plan. [2]
Medications: A polypharmacy list that includes at least one interaction or dosing issue. [2]
Examination: Key positives and critical negatives for dangerous differentials. [1]
Investigations: A small set of results that change management. [1] [2]
Tasks
- Present a prioritised problem list. [1]
- Defend investigations and immediate therapy. [1] [2]
- Provide safety-net and follow-up advice. [2]
Model discussion points
- Working diagnosis and acuity. [1]
- Differentials and discriminators. [2]
- Treatment sequence and monitoring. [1] [2]
- Multimorbidity and communication. [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