Lady with wings: a case report of giant neurofibromatosis type I

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Abstract

Rationale:

Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2.

Patient concerns:

A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood.

Diagnosis:

A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma.

Interventions:

Surgical excision of tumor and multiple Z plasty reconstruction of the back was carried out.

Outcomes:

The excised neurofibroma weighed 6.7 kg containing thickened nerves, nerve roots, and circuitous vessels. The histopathological report confirmed plexiform and diffuse type cutaneous neurofibroma without any malignant transformation. Surgical excision and reconstruction with regular follow-up is an excellent choice of treatment for such a giant neurofibroma as in this case.

Lessons:

NF-I is a genetic disease which could present as a giant cutaneous neurofibroma. One of the treatment options for giant neurofibromas causing deformity and physical disability is by surgical excision and histopathological examination with regular follow-up for NF-I recurrence.

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