Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl
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Published on: May 17, 2024
Patricia G Wheeler1, Ab Sadeghi-Nejad
1Division of Genetics and Metabolism, Nemours Children's Clinic, Orlando, Florida, USA. pwheeler@nemours.org
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.
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