In simple words: Neurofibromatosis type 1, also known as von Recklinghausen's disease, is a genetic condition where tumors grow along nerves. It can also cause changes in skin color and sometimes problems with the eyes, bones, and brain. Some people with NF1 have mild symptoms, while others have more serious problems.

Neurofibromatosis, type 1, also known as von Recklinghausen's disease, is an autosomal dominant genetic disorder affecting the nervous system, muscles, bones, and skin. It is characterized by the growth of tumors along nerves, as well as café-au-lait spots (hyperpigmented skin lesions) and Lisch nodules (iris hamartomas). Individuals with NF1 may experience a range of symptoms, from mild skin changes to severe neurological complications like optic nerve gliomas and neurofibrosarcomas.There is also an increased risk of learning disabilities.

Example 1: A pediatrician notices multiple café-au-lait spots on a 6-month-old infant during a well-child visit. Upon further examination, the pediatrician also finds Lisch nodules in the infant’s eyes, raising suspicion for NF1. Genetic testing is ordered to confirm the diagnosis., A 30-year-old adult presents with several soft lumps under their skin and reports a family history of NF1.They undergo a clinical evaluation and genetic testing, which confirms a diagnosis of NF1. They are advised on regular monitoring for potential complications., A child with a known diagnosis of NF1 develops optic glioma, requiring referral to a neuro-ophthalmologist for specialized care and treatment planning.

Documentation for NF1 should include detailed clinical findings, such as the number and size of café-au-lait spots, the presence of neurofibromas or Lisch nodules, any neurological symptoms, and family history. Genetic testing results should also be documented.Records of ongoing monitoring and management of complications should also be maintained.