Tuberous sclerosis in Child
Diagnostic criteria have been developed. Diagnosis can be made when 2 major OR 1 major and 2 or more minor features are observed. See Best Tests.
For more information on tuberous sclerosis 1, see OMIM.
For more information on tuberous sclerosis 2, see OMIM.
Q85.1 – Tuberous sclerosis
7199000 – Tuberous sclerosis
- Acne vulgaris – Deep nodules, pustules, and open and closed comedones instead of smooth papules.
- Periorificial dermatitis – Concentrated periorificially rather than over the central face, often affects the upper lip, and waxes and wanes over time.
- Keratosis pilaris – Pinpoint and rough rather than dome-shaped and smooth.
- Trichoepitheliomas – Often familial (Brooke's tumor), smooth and translucent, may require biopsy to distinguish.
- Pigmentary mosaicism (nevus depigmentosus) – Follows lines of Blaschko, often with irregular borders rather than randomly distributed and smooth.
- Nevus anemicus – Disappears on diascopy, does not fluoresce under Wood's lamp.
- Vitiligo – Progressive, depigmented, and symmetric.
- Traumatic ungual fibroma – Often solitary with a history of nail trauma.
- Smooth muscle hamartoma – Hypertrichosis, piloerection on rubbing.
- Leiomyoma – Intermittently painful, brown to blue, with translucent appearance.
- Elastoma – Increased elastic tissue on histochemistry.
- Plexiform neurofibroma – Hyperpigmentation, hypertrichosis, "bag of worms" consistency, underlying soft tissue or bony hypertrophy.
- Lipoma – Rubbery and well-defined.