What is a common symptom of von Recklinghausen disease (Neurofibromatosis Type 1)?

Von Recklinghausen disease, also known as Neurofibromatosis Type 1 (NF1), is characterized by a range of clinical manifestations, with café-au-lait spots being one of the most common symptoms. These are hyperpigmented skin lesions that typically present as light brown patches and are often among the earliest signs of the disorder, appearing in childhood.

The presence of café-au-lait spots is significant diagnostically, especially when there are six or more spots with a size greater than 5 mm in prepubertal individuals or greater than 15 mm in postpubertal individuals. These spots are not only indicative of NF1 but can also assist clinicians in making an early diagnosis, facilitating monitoring for other associated complications of the disease, such as neurofibromas, learning disabilities, and various other tumors that can develop later in life.

While other symptoms may be associated with NF1, such as neurofibromas or mucocutaneous lesions like axillary freckling and Lisch nodules, café-au-lait spots are generally the hallmark and most conspicuous feature used in the diagnosis of this condition. Thus, recognizing these spots is integral to understanding Neurofibromatosis Type 1 and its clinical implications.