Tuberous sclerosis

external

• Synonyms

  • Tuberose sclerosis
  • Bourneville disease
  • Epiloia
  • Bourneville-Pringle disease
  • Pringle disease

• Effects

  • Adenoma sebaceum
  • Periungual fibroma
  • Ash leaf macule
  • Cafe au lait patch
  • Subcutaneous nodule
  • Shagreen patches
  • Renal cyst
  • Renal angiomyolipoma
  • Cortical hamartoma
  • Retinal phakoma
  • Adult polycystic kidney disease
  • Amelanotic naevus
  • Periventricular calcification
  • Gum hyperplasia
  • Subependymal giant cell astrocytoma

• Parents

  • Phakomatosis
  • Autosomal dominant disorder

• Description

  • "Autosomal dominant Prevalence 8 in 10
  • 000 Chromosome 9q34 or 16p 40% have Shagreen patches 40% have periungual fibromata 100% have ash leaf macules"