Ann Dermatol.  2019 Jun;31(3):331-334. 10.5021/ad.2019.31.3.331.

Giant Plexiform Neurofibroma of the Perineum and Pelvic Cavity Manifesting as Segmental Neurofibromatosis

• Park MJ
• Seong GH
• Park M
• Choi MS
• Hong SP
• Park BC
• Kim MH

• KMID: 2444867
• DOI: http://doi.org/10.5021/ad.2019.31.3.331

Abstract

Segmental neurofibromatosis (SN) is rare form of neurofibromatosis characterized that cutaneous or neural changes are limited to one region of the body. SN present neurofibroma and less frequently, café au lait macules (CALMs) on usually unilateral or rarely bilateral of the body region. SN seems to have fewer systemic complications than neurofibromatosis type I or II, except patients with plexiform neurofibromas (PNFs). PNFs are rare benign peripheral nerve sheath tumors which arise from single or multiple nerves. PNFs can easily become aggressive growth particularly during puberty or pregnancy and leading to disfigurement and functional impairment. Also, PNFs can transform to malignant peripheral nerve sheath tumor, higher rate than classic neurofibroma. So, it is important to decide appropriate treatment modalities and time to intervention.

Keyword

Cafe-au lait spot; Pelvis; Plexiform neurofibroma; Segmental neurofibromatosis

MeSH Terms

Adolescent
Body Regions
Humans
Nerve Sheath Neoplasms
Neurofibroma
Neurofibroma, Plexiform*
Neurofibromatoses*
Neurofibromatosis 1
Pelvis
Perineum*
Peripheral Nerves
Pregnancy
Puberty

Figure

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  Fig. 1 (A) Asymptomatic skin colored grouped papule and nodules of the left vulva with café au lait macules (CALMs) (arrowheads). (B) CALMs (arrowheads) are located on left buttock which is bigger than right side.

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  Fig. 2 On magnetic resonance imaging, it showed extensive multifocal conglomerated enhancing nodular lesion in pelvic cavity (yellow arrowheads).

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  Fig. 3 (A) Well defined nodules are surrounded with perineurium and situated at various directions with tortuous appearance (H&E, ×40). (B) Round cells (endoneurial mucocyte) are loosely spaced (H&E, ×400, red arrow). (C) Positivity in S-100 protein immunoreactivity (S-100, ×100).

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