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.

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.