Paeds Vivas · paediatric-dermatology
Skin manifestations of systemic disease — branching viva
Branching structured-oral viva on cutaneous manifestations of systemic disease in children: the six families of cutaneous signals (reactive erythemas, neutrophilic dermatoses, metabolic and endocrine markers, gastrointestinal and nutritional dermatoses, haematological and neoplastic markers, neurocutaneous syndromes); the mechanisms from immune complex deposition and IgA-mediated blistering through hyperinsulinaemia and zinc depletion to blast infiltration and somatic gene mutation; the targeted work-up each sign dictates; the revised neurofibromatosis type 1 and updated tuberous sclerosis diagnostic criteria; and the emergencies of meningococcal purpura, the blueberry muffin neonate and the V1 port-wine stain.
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Study tools
Target exams
Opening question
Examiner: Take me through this child. What is the skin sign, and what is your frame for the work-up? [1]
Candidate: The tender, warm, bilateral red nodules over the shins are erythema nodosum, a reactive septal panniculitis. My frame is the recognise, investigate and refer approach: the skin sign is a door to an underlying systemic disease, so I will not treat it as a primary skin disease. I will chase the trigger — in his age group a recent streptococcal sore throat is the commonest cause — and the nodules will resolve over weeks as the trigger settles. [1]
Examiner: How do you classify cutaneous manifestations of systemic disease more broadly? [1]
Candidate: By mechanism, into six families. The reactive erythemas (erythema nodosum, erythema multiforme, Gianotti-Crosti) signal infection and hypersensitivity. The neutrophilic dermatoses (Sweet syndrome, pyoderma gangrenosum) point to inflammatory bowel disease and malignancy. The metabolic and endocrine markers (acanthosis nigricans, necrobiosis lipoidica, xanthomas) flag insulin resistance and diabetes. The gastrointestinal and nutritional dermatoses (dermatitis herpetiformis, acrodermatitis enteropathica) name the gut and the diet. The haematological and neoplastic markers (petechiae, blueberry muffin baby) warn of leukaemia and septicaemia. And the neurocutaneous syndromes (neurofibromatosis type 1, tuberous sclerosis, Sturge-Weber) carry their own diagnostic criteria. [1] [8]
References6ShowHide
- [1]Leung AKC; Leong KF; Lam JM Erythema nodosum. World J Pediatr, 2018.PMID 30269303
- [5]Al-Toma A; Volta U; Auricchio R; Castillejo G; et al European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J, 2019.PMID 31210940
- [6]Nguyen CN; Kim SJ Dermatitis Herpetiformis: An Update on Diagnosis, Disease Monitoring, and Management. Medicina (Kaunas), 2021.PMID 34441049
- [7]Legius E; Messiaen L; Wolkenstein P; Pancza P; et al Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med, 2021.PMID 34012067
- [8]Northrup H; Aronow ME; Bebin EM; Bissler J; et al Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol, 2021.PMID 34399110
- [9]Poliner A; Fernandez Faith E; Blieden L; Kelly KM; et al Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management. Pediatr Rev, 2022.PMID 36045161