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Pimples, Macules, and Seizure Disorder in a Young Family

Pimples, Macules, and Seizure Disorder in a Young Family


  • 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 base… 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.

  • Examination of the 3-yaer-old reveals multiple white macules on her legs.

  • 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.

  • Differential diagnoses: Neurofibromatosis; incontinentia pigmenti; maternal lupus erythematosus/ congenital lupus; tuberous sclerosis; Miller-Dieker syndrome.

  • Correct diagnosis: tuberous sclerosis.

  • 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 is systemic and affects skin, brain, kidneys, lungs, heart, eyes, bone.
  • 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.

  • Childhood presentation: generalized seizure disorder; pathognomonic skin lesions; eye lesions.

  • Tuberous sclerosis eye involvement: mulberry tumors (astrocytic hamartomas); phakoma.

  • Tuberous sclerosis heart involvement: >50% children have cardiac rhabdomyomas.

  • 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.

  • Tuberous sclerosis checklist for primary care: Complete history and physical examination every 6-12 months. Referrals: ophthalmologist, neurologist, dermatology, cardiology. Examine first degree relatives. Consider baseline MR.

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.

 

Resources

Northrup 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)

 

 

 

 

 

Comments

Excellent case presentation and discussion. As an incidental presentation, this was quite astute.

Raymond @

Thank you, Raymond. Even as a PGY - 42, I am still amazed as to the patients with complex issues who enter our practices with minor complaints. It is cases like this, however, that make primary care so very interesting,challenging, and worthwhile.
Jon

Jonathan @

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