Cutaneous Features of Neurofibromatosis

Sang-Eun Kim , BSc, MSc,1 Joseph M. Lam, MD, FRCPC,2

1Faulty of Medicine, University of British Columbia, BC.
2Assistant Clinical Professor, Department of Paediatrics, Associate Member, Department of Dermatology, University of British Columbia, BC.


Abstract: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that is characterized by café-au-lait spots, axillary or inguinal freckles, cutaneous neurofibromas, and skeletal dysplasias. Currently, there are no curative therapies for NF1 but medical therapies, including systemic sirolimus, have opened the door for significant medical advances in the treatment of NF1. Management of NF1 has been focused on routine examinations looking out for potential complications of NF1. However, many patients with NF1 are missed and may not be diagnosed early. The following review article will provide an overview of select common and uncommon cutaneous features of NF1 to help the practitioner recognize, diagnose and treat patients with NF1.
Key Words: Neurofibromatosis type 1, café-au-lait spots, axillary freckles, inguinal freckles, cutaneous neurofibromas.
Clinical diagnosis of NF1 requires the presence of at least 2 out of the 7 criteria.
Not all patients with café-au-lait spots will have NF1.
Axillary and inguinal freckling are the most specific criteria for NF1.
Three different types of cutaneous neurofibromas are dermal, subcutaneous, and plexiform neurofibromas (PNs). PNs can become malignant.
Juvenile xanthogranuloma and nevus anemicus are uncommon associated cutaneous features of NF1.
NF1 is a genetic disorder and there is no cure.
Patients should be routinely monitored for rare complications and annual exam should include BP measurement, skin and bone abnormality assessment, visual acuity checks, and ophthalmological evaluations.
Not all Cafe-au-lait spots require specialist referral however early recognition and prompt referral is essential.
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