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Keywords

Axillary Freckling, Dermatology, Neurofibromatosis, Neurofibroma

 

Authors

  1. Sirvaitis, Skirmante
  2. Sirvaitis, Ringaile
  3. Perusek, Thomas
  4. Garcia-Zuazaga, Jorge

ABSTRACT

Purpose: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem disease with cutaneous symptoms occurring from birth to adulthood. It is a disorder with multiple malformations and tumors involving the skin, nervous system, and skeleton. The purpose of this report is to provide dermatology nurse practitioners with an unusual case involving axillary freckling as well as evidence-based guidance for the diagnosis and management of cutaneous NF1 symptoms.

 

Relevance: NF1 affects approximately 1 in 3,500 people. There is an equal incidence in men and women as well as in all races and ethnic groups. Most of the time, patients initially present to a primary care provider; however, patients may also present to a dermatology practice. It is indispensable for dermatology nurse practitioners to recognize early manifestations of this disorder so that the patient may be referred to seek specialized care and decrease the chance of disease complications.

 

Essential Points: This report provides a case of NF1 as well as background, pathophysiology, diagnostic criteria, differential diagnoses, prognosis, and treatment of cutaneous manifestations of this disease.