TELEDERMATOLOGY READER REPORT1

History:

Chief complaint: presenting for skin check of soft fleshy bumps.

History of present illness: A 68-year-old man presents for a skin check. He notes gradually increasing number of fleshy papules on his left upper chest, back, and shoulder that started in his 20s. Prior treatment: none. His primary symptom: none.

IMAGE QUALITY ASSESSMENT

Fully satisfactory.

TELEDERMATOLOGY IMAGING READER REPORT

One image was provided that shows pink to flesh-colored papules on the left upper lateral chest and left shoulder (see Figure 1).

FIGURE 1. Left upper chest and shoulder with fleshy papules.

INTERPRETATION OF IMAGES

Lesion A

Findings

The unilateral thoracic papules along with the history are most consistent with the diagnosis of mosaic neurofibromatosis.

RECOMMENDATIONS

Skin Care and Treatment Recommendations

Management of mosaic neurofibromatosis is primarily symptom-based. Surgical or laser removal can be done for symptomatic or cosmetically sensitive lesions. Patient should be assessed and monitored for plexiform neurofibromas and the development of malignant peripheral nerve sheath tumors.

RECOMMENDED FOLLOW-UP

Type of visit: face-to-face dermatology evaluation for other neurofibromatosis stigmata. Consideration for genetic counseling.

CLINICAL PEARL

Mosaic neurofibromatosis is a rare variant of Neurofibromatosis Type 1 with cutaneous findings caused by postzygotic mutation of the NF-1 gene, which encodes the tumor suppressor neurofibromin (Tinschert et al., 2000). The condition was previously introduced as segmental neurofibromatosis in 1977 (Miller & Sparkes, 1977) and then classified as Neurofibromatosis Type 5 (Castellanos et al., 2015). More recently, mosaic neurofibromatosis became the recommended terminology (Garcia-Romero et al., 2016).

Mosaic neurofibromatosis manifests with localized distribution of the cutaneous findings seen in Neurofibromatosis Type 1 (Victor, 2005). The cutaneous diagnostic findings of Neurofibromatosis Type 1 include cafe au lait spots, neurofibromas or a plexiform neurofibroma, and axillary or inguinal freckles. The noncutaneous diagnostic findings are Lisch nodules, optic pathway glioma, distinct osseous lesions, or a first-degree relative with Neurofibromatosis Type 1 ("Neurofibromatosis. Conference statement," 1988). In mosaic neurofibromatosis, the lesions are typically unilateral and involve the cervical and thoracic regions (Hager et al., 1997). In pediatric patients, pigmentary abnormalities have been the most common manifestation. The condition is uncommonly associated with the systemic findings classically seen in Neurofibromatosis Type 1 (Hom et al., 2020). Mosaic neurofibromatosis has a lower transmission to offspring; however, genetic counseling may still be considered as transmission can occur if gonadal mosaicism is present (Oguzkan et al., 2004).

REFERENCES