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Pimples, Macules, and Seizure Disorder in a Young Family


A mom brings her 2 young girls in for runny noses. But a close look at her face got this primary care doc thinking deeper thoughts.

Many dermatologic conditions are much more than skin deep and may be telegraphic signs of systemic morbidity. In this actual case study, a mother brings her 2 daugthers to the clinic for evaluation of "sniffles." They did sound congested, but it was not what I heard that bothered me; it was what I saw.Click through the case in these slides and see if you can make the diagnosis. ResourcesNorthrup H, Koenig MK, Pearson DA, Au K-S. Tuberous Sclerosis Complex; Synonym: Bourneville Disease. GeneReviews® [Internet]. Updated Sept 2015.Northrup H, Krueger DA. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:243–254. doi:10.1016/j.pediatrneurol.2013.08.001. (Free full text)Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011;127:e117-25. doi: 10.1542/peds.2010-0192. Epub 2010 Dec 20. (Free full text)Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28:e32.  (Free full text)Medical Home Portal. Tuberous sclerosis complex (TSC). (Web page)National Institute of Neurological Disorders and Stroke. NINDS Tuberous Sclerosis Information Page. (Web page)Hurst  J, Wilcoski S. Recognizing an index case of tuberous sclerosis. Am Fam Physician. 2000;61:703-708. (Free full text)     

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