Pringle-bourneville phacomatosis Q85.1

Full picture of the neurocutaneous malformation syndrome described by Bourneville in 1880 (old term: phacomatosis) with:

• adenoma sebaceum
• lumbosacral connective tissue nevus
• Ash-leaf stains
• Koenen tumour
• tuberous cerebral sclerosis (see below tuberous sclerosis)
• Angioleiomyomas (see below lipoma)
• mental retardation and seizure disorder.

S. and Tuberous Sclerosis

Prevalence of 1:10,000

1. Borelli S (1999) Koenen, Kothe and peri-ungual fibroma in tuberous sclerosis. dermatologist 50: 368-369
2. Bourneville DM (1880) Sclérose tubéreuse des circonvolution cérébrales: Idioty and epilepsy hemiplégique. Arch Neurol (Paris) 1: 81-9l
3. Bourneville DM, Brissaud E (1881) Encéphalite ou sclérose tubéreuse des circonvolutions cérébrales. Arch Neurol (Paris) 1: 390-412
4. Burrows NJ et al (2004) Pulmonary artery aneurysm and tuberous sclerosis. Thorax 59: 86
5. Narayanan V (2003) Tuberous sclerosis complex: genetics to pathogenesis. Pediatric Neurol 29: 404-409
6. Pringle JJ (1890) A case of congenital adenoma sebaceum. Br J Dermatol 2: 1-14
7. Pringle JJ (1890) On a case of congenital adenoma sebaceum. Monatsh prakt Dermatol (Leipzig) 10: 197-211
8. Rieger E et al (1992) The clinical spectrum of orangan manifestations in tuberous sclerosis. Dermatologist 43: 272-277