title: Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.
abstract: Neurofibromatosis type 1 and tuberous sclerosis are the two most common neurocutaneous disorders in humans. Both are transmitted as autosomal dominant conditions with a high rate of new mutations and similar clinical features. However, the two disorders have distinct and well-delineated genetic, biochemical, and physical findings. Simultaneous occurrence of these two conditions is rare. We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual.
authors.affiliation: Division of Genetics and Metabolism, Nemours Children's Clinic, Orlando, Florida, USA. pwheeler@nemours.org
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Wheeler
authors.forename: Ab
authors.initials: A
authors.lastname: Sadeghi-Nejad
mesh_terms: D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000150:complications; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D013848:Thigh; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics