Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.
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.
Wheeler
Patricia G
PG
Division of Genetics and Metabolism, Nemours Children's Clinic, Orlando, Florida, USA. pwheeler@nemours.org
Sadeghi-Nejad
Ab
A
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