ABC Medical Center > Diseases > Von Recklinghausen’s Disease

What is von recklinghausen’s disease?

11 December 2025

This is a low-incidence hereditary condition characterized primarily by the formation of benign tumors on the skin, and the nerves of the brain and spinal cord. However, sometimes cancerous tumors can develop in the nerves or an existing tumor can evolve.

Von Recklinghausen’s disease is caused by an alteration of chromosome 17 responsible for producing neurofibromin, a protein that prevents cells from growing abnormally and tumors from developing. Most people who suffer from it inherit it from one of their parents, and in rare cases, they acquire it spontaneously.

These tumors, called neurofibromas, usually appear during adolescence, mainly in the peripheral nerves located beneath the skin. If they affect the nerves inside the body, they can cause alterations, especially if they compress an important organ.

Signs and symptoms Von Recklinghausen’s Disease

The symptoms vary from person to person, but usually include:

  • Bone abnormalities.
  • Seizure episodes.
  • Mild cognitive impairment.
  • Pain from the affected nerves.
  • Constipation.
  • Brown spots on the skin that can spread beneath the skin’s surface.
  • Nodular neurofibromas.
  • Freckles in the armpits or groin.
  • High blood pressure (hypertension).

Complications that Von Recklinghausen’s disease can trigger include:

  • Blindness.
  • Renal artery stenosis (narrowing).
  • Bone fractures.
  • Cancerous tumors.
  • Loss of nerve function in the affected nerves.

Diagnosis and treatment Von Recklinghausen’s Disease

Once the doctor analyzes your symptoms and clinical history, they will perform a physical exam and order the following tests:

  • Blood tests.
  • Eye exams.
  • Genetic tests.
  • Magnetic resonance imaging (MRI).
  • Computed tomography (CT) scan.

The treatment will depend on the severity of the symptoms, and the location and size of the tumors, but generally includes:

  • Surgery to remove tumors.
  • Medications (Drugs) to relieve symptoms.
  • Chemotherapy.

At the Neurological Center, a group of highly trained and certified doctors in the various neurological specialties are prepared to serve you with the quality and warmth that characterizes us.

Related centers and departments Von Recklinghausen’s Disease

Neurology Center
Internal medicine
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • stjude.org
  • elsevier.es
  • neurology.org
  • aeped.es
  • mayoclinic.org
  • medlineplus.gov
  • msdmanuals.com
  • medigraphic.com
  • Clará MMG, Rodríguez RI, Martínez MJO, et al. Neurofibroma gigante en región torácica en la enfermedad de Von Recklinghausen. Invest Medicoquir. 2021;13(1):.
  • Dornes RR, Vázquez MY, Alberna CA. Enfermedad de Von Recklinghausen con luxación recurrente de la cadera y osteonecrosis. Presentación de un caso. Medisur. 2020;18(2):265-271.
  • Vargas MF, Arenas R. Enfermedad de von Recklinghausen. Una visión actual de las neurofibromatosis. Dermatología Cosmética, Médica y Quirúrgica. 2009;7(3):181-190.

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