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.
The young children appear to have upper respiratory infections; but the mother's ruddy complexion is of interest.
You note papular lesions that are flesh-colored with an erythematous, almost vascular baseâ¦ like telangiectasia
The flesh-colored papular lesions are located in the nasolabial folds, on the cheeks, and on the chin.
The 3-year-old daughter has cold symptoms and also an oval-shaped depigmented lesion on her left lower leg.
The 5-year-old also has oval, leaf-shaped white macules on her legs. The mother remarks that she and both daughters also have a seizure disorder.
Examination details: acne-like lesions in the mother, hypopigmented “ash leaf”shaped lesions on both of daughters; family history of seizures.
Neurofibromatosis; incontinentia pigmenti; maternal lupus erythematosus/ congenital lupus; tuberous sclerosis; Miller-Dieker syndrome.
Tuberous sclerosis is also known as epiloia (EPIlepsy + LOw Intelligence + Adenoma sebacium) and Bourneville disease.
Tuberous sclerosis genetics: Autosomal dominant; >50% are sporadic; heterogeneous disease-varies from severe mental retardation with incapacitating seizures to normal intelligence and no seizures.
In general, the younger a patient when tuberous sclerosis is detected, the greater the likelihood of mental retardation.
Tuberous sclerosis brain lesions are tubers: on convolution of hemispheres; "candle-dripping” appearance on skull x-ray; may obstruct CSF flow; more tubers, greater impairment; tuber may differentiate into malignant astrocytoma.
Infantile presentation: Infantile spasms; hypsarrhythmic EEG pattern; white macules; mental retardation.
Tuberous sclerosis. Kidney lesions: hamartomas, polycystic disease; angiomyolipomas of lung --> pneumothorax, cystic or fibrous lung changes; bone cysts occur in more than 60% of patients, most often in the phalanges.
Tuberous sclerosis causes of death: Infancy - cardiac tumors; childhood - brain tumors; young adult - kidney disease.
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.Â ResourcesNorthrup H, Koenig MK, Pearson DA, Au K-S. Tuberous Sclerosis Complex; Synonym: Bourneville Disease. GeneReviewsÂ® [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;49:243â254. 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.Â (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 Â J, Wilcoski S. Recognizing an index case of tuberous sclerosis. Am Fam Physician. 2000;61:703-708. (Free full text)Â Â Â Â Â