Bilateral segmental neurofibromatosis: a case report and review

Abstract

A 65‐year‐old white woman presented with complaints of ‘‘moles’' on the left side of her trunk present for an undetermined period of time. She denied associated pain and pruritus. Her past medical history was significant for hypothyroidism and depression, for which she was taking levothyroxine and venlafaxine, respectively. In addition, she was on hormone replacement therapy. Reportedly, no other family members were affected by similar skin lesions. Physical examination revealed soft, dome‐shaped, skin‐colored papules grouped in a T11–12 dermatomal distribution on her trunk bilaterally. The lesions were more numerous and densely grouped on the right side of her trunk (Figs 1 and 2). No axillary freckling or café‐au‐lait macules were noted. No Lisch nodules were observed upon ophthalmologic examination. 1 Dermatomal distribution of neurofibromas on the right flank 2 Less obvious dermatomal distribution of neurofibromas on the left abdomen Histologic examination of skin biopsies taken from lesions on both sides of her abdomen in the affected area revealed a proliferation of fusiform cells in a loose fibrous stroma, consistent with neurofibroma.

Multiple segmental neurofibromatosis

“…The affected area, however, can vary in size from a narrow strip to an area encompassing half of the body. Lesions are usually unilateral, although there are reports of bilateral segmental NF 2 . We describe a patient who showed multiple segmental expressions of the disease.…”

“…The age of onset of segmental NF shows a bimodal distribution, with peaks at 10–30 and 50–70 years. Females are affected twice as often as males, and the right side of the body is more commonly affected than the left (4:3) 2 . Areas that are predisposed to segmental NF are the thorax, abdomen, arms, lower limbs and face 3 .…”

Juxtaposition of an Epidural Intraforaminal Cavernous Hemangioma and an Intradural Schwannoma

“…21 Segmental neurofibromatosis is a rare but well-characterized entity and has been associated with somatic mosaicism. [22][23][24][25] Our patient, however, did not display cutaneous hemangiomas, or cutaneous manifestations of neurofibromatosis, and none of the lesions was a neurofibroma. Therefore, segmental neurofibromatosis cannot be diagnosed.…”

Bilateral segmental neurofibromatosis with gastric carcinoma

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café‐au‐lait spots, neurofibromas, and intertriginous freckles on the skin, with Lisch nodules in the iris. Segmental neurofibromatosis (SN) is a distinct variant of NF1, and exists unilaterally or bilaterally on a limited segment of the body 1,2 . To date, more than 100 cases have been reported, and approximately 6% of these cases are bilateral 1 .…”

“…Segmental neurofibromatosis (SN) is a distinct variant of NF1, and exists unilaterally or bilaterally on a limited segment of the body 1,2 . To date, more than 100 cases have been reported, and approximately 6% of these cases are bilateral 1 . Most segmental types are not inherited 1 .…”