Tabagisme et peau
What is tuberous sclerosis ?
- TSC is also called Bourneville-Pringle disease, Epiloia.
- It affects is of 1 individual out of 15000.
- It is an inherited (genodermatosis) neurocutaneous disorder with systemic and neurological manifestations (phacomatosis).
It what way is it inherited ?
- It is inherited in an autosomal dominant pattern. However this is not absolute as different factors may be involved (variable penetrance).
- It is caused by a mutation of genes which prevent proliferation (tumor suppresion genes):
- hamartin (TSC1, chromosome 9).
- tuberin (TSC2, chromosome 16).
How does it commonly present ?
- It often presents as children having seizures.
- Salient features are a triad of:
- Epilepsy
- Low Intelligence
- Adenoma Sebaceum
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- “Adénoma Sebaceum” (Facial Angiofibromas) (Tuberous Sclerosis)
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How does it present on the skin ?
- Adenoma Sebaceum: These are in fact angiofibromas (smooth red bumps) and are located most commonly on the face. When located on the nails, they are called Koenen tumors.
- Connective Tissue Naevi
- Shagreen Patch: looks like pebbled leather and is usually located on the lower back. Can be located on the forehead. Is caused by the proliferation of collagen.
- Ash-leaf macule: this is caused by impaired transfer of melanosomes (from pigment cells) (melanosomes) to skin cells (keratinocytes). Examination with Wood’s light is warranted, especially when children present with unexplained seizures.
- Ash-leaf Macule (Tuberous Sclerosis)
What are the things to look for on the rest of the body ?
- It is important to look for anomalies in the Nervous system, the heart, the kidneys and oral cavity (teeth enamel defects)
- Imagery is therefore necessary (Radiography, MRI scan (Magnetic Resonance Imagery), CT scan (Computed Tomography)).
What is the treatment ?
- Treatments options are quite limited. Neurologists are the main specialists involved as they deal with the seizures.
- Early educational; testing and guidance are warranted
- Skin lesions may be treated with dermabrasion or CO2 laser.
Bibliography: Sterry W. et al. Thieme Clinical Companions: Dermatology. 1st edition in English
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