Neurofibromatosis type 1

Case contributed by Dr Domenico Nicoletti


Diffuse pain and neurological deficits in the extremities.

Patient Data

Age: 35 years
Gender: Male

Presence of neurofibromas of varying sizes from the roots of the cord bilaterally, there are many in the paravertebral region along the thoracic-lumbar and sacral spine.

Neurofibromas are detectable in the sacral foramen, obturator region, proximal thighs and root of the penis.

Case Discussion

Neurofibromatosis type 1 is a multisystemic neurocutaneous hereditary disease characterized by a predisposition to the development of benign and malignant tumors.

Neurofibromas are tumors of peripheral nerve sheath that come in the form of skin lesions, subcutaneous or plexiform (rarely before puberty).

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Case information

rID: 36933
Published: 18th May 2015
Last edited: 12th Dec 2019
Inclusion in quiz mode: Included