Paeds Vivas · paediatric-dermatology
Genodermatoses and neurocutaneous skin findings — branching viva
Branching structured-oral viva on paediatric genodermatoses and neurocutaneous syndromes: the NIH diagnostic criteria for neurofibromatosis type 1 and its café-au-lait macules, skinfold freckling and neurofibromas; the RAS-MAPK pathway biology of NF1, the mTOR pathway biology of tuberous sclerosis complex with its ash-leaf macules, angiofibromas and subependymal giant cell astrocytoma, and the role of vigabatrin and everolimus; and the somatic mosaic GNAQ biology, forehead port-wine stain, leptomeningeal angioma and glaucoma of Sturge-Weber syndrome.
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Prompt
You are the general paediatric registrar. A four-year-old is referred with multiple café-au-lait macules, axillary freckling and soft skin nodules, and her mother is similarly affected. The examiner asks you to take the candidate through the diagnosis and diagnostic criteria, the pathophysiology and the shared RAS-MAPK and mTOR signalling story, the surveillance and the dangerous complications, and then to contrast this inherited phakomatosis with the sporadic mosaic Sturge-Weber syndrome.
Opening branch — the diagnosis
Candidate brief. Take the diagnosis and diagnostic criteria first. [1]
- What is the most likely diagnosis, and which National Institutes of Health consensus criteria does this child meet? Name the seven features. [1]
- How does the caf\u00e9-au-lait macule threshold differ before and after puberty (six or more, at least five millimetres prepubertal and fifteen postpubertal)? [1] [2]
References6ShowHide
- [1]National Institutes of Health Consensus Development Panel Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol, 1988.PMID 3128965
- [2]Gutmann DH; Ferner RE; Listernick RH; et al Neurofibromatosis type 1. Nat Rev Dis Primers, 2017.PMID 28230061
- [3]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
- [4]Krueger DA; Northrup H; International Tuberous Sclerosis Complex Consensus Group Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol, 2013.PMID 24053983
- [5]Shirley MD; Tang H; Gallione CJ; et al Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med, 2013.PMID 23656586
- [6]Lo W; Marchuk DA; Ball KL; et al Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol, 2012.PMID 22191476