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Review
. 2023 May 16;15(10):2770.
doi: 10.3390/cancers15102770.

Dermatologic Manifestations of Neurofibromatosis Type 1 and Emerging Treatments

Dina Poplausky  1 , Jade N Young  1 , Hansen Tai  1 , Ryan Rivera-Oyola  1 , Nicholas Gulati  1 , Rebecca M Brown  2
Affiliations
Review

Dermatologic Manifestations of Neurofibromatosis Type 1 and Emerging Treatments

Dina Poplausky et al. Cancers (Basel). .

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that increases one's risk for both benign and malignant tumors. NF1 affects every organ in the body, but the most distinctive symptoms that are often the most bothersome to patients are the cutaneous manifestations, which can be unsightly, cause pain or pruritus, and have limited therapeutic options. In an effort to increase awareness of lesser-known dermatologic associations and to promote multidisciplinary care, we conducted a narrative review to shed light on dermatologic associations of NF1 as well as emerging treatment options. Topics covered include cutaneous neurofibromas, plexiform neurofibromas, diffuse neurofibromas, distinct nodular lesions, malignant peripheral nerve sheath tumors, glomus tumors, juvenile xanthogranulomas, skin cancer, and cutaneous T-cell lymphoma.

Keywords: JCMML; MPNST; NF1; cutaneous; cutaneous neurofibroma; glomus tumor; neurofibroma; neurofibromatosis type 1; plexiform neurofibroma.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Cutaneous neurofibromas in NF1 patients with varying Fitzpatrick skin phototypes: (a) Fitzpatrick II, (b) Fitzpatrick III, (c) Fitzpatrick IV, and (d) Fitzpatrick V.
Figure 2
Figure 2
An MPNST with dermal involvement on the right flank of an NF1 patient [50].
Figure 3
Figure 3
(a) A glomus tumor presenting nail dystrophy. (b) Surgery revealed a red-blue subungual glomus tumor [60].
See this image and copyright information in PMC

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