Lady with wings

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.

Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature

“…NF1 also known as Von Recklinghausen’s disease or peripheral neurofibromatosis, is the most common form of neurofibromatosis represents up to 90% of the cases [ 3 ]. It has an autosomal dominant pattern of inheritance, with one mutated copy of the NF1 gene in each cell, which is inherited from an affected parent in about half of the cases [ 2 ][ 3 ]. Sporadic new mutations are responsible for the other half of the cases, with no family history of the disorder [ 2 ].…”

“…It has an autosomal dominant pattern of inheritance, with one mutated copy of the NF1 gene in each cell, which is inherited from an affected parent in about half of the cases [ 2 ][ 3 ]. Sporadic new mutations are responsible for the other half of the cases, with no family history of the disorder [ 2 ]. In contrast to most of the autosomal dominant conditions, two copies of the NF1 gene must be altered to trigger tumour formation in neurofibromatosis type 1, as the mutation in the second copy of the NF1 gene occurs during a person’s lifetime in cells surrounding nerves [ 1 ].…”

“…Neurofibromatosis type 1 (NF1) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours [ 1 ][ 2 ]. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, which provides instructions for making a protein called neurofibromin, produced in many cells, including nerve cells and specialised cells surrounding nerves (oligodendrocytes and Schwann cells) [ 3 ].…”

“…The clinical signs and symptoms vary widely among affected people, usually beginning in early childhood [ 1 ]. One of the most typical manifestations represents the so-called café-au-lait spots wich can be single or multiple, gradually increasing in size [ 1 ][ 2 ]. Tumors like neurofibromas can arise along nerves throughout the body [ 2 ].…”

“…Clinical diagnosis of NF1 requires the presence of at least 2 of the following 7 criteria: 1) Six or more café-au-lait spots or hyperpigmented macules =5 mm in diameter in prepubertal children and 15 mm postpubertal; 2) Axillary or inguinal freckles (>2 freckles); 3) Two or more typical neurofibromas or one plexiform neurofibroma; 4) Optic nerve glioma; 5) Two or more iris hamartomas (Lisch nodules); 6) Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis; 7) First-degree relative (mother, father, sister, brother) with NF1 [ 2 ].…”