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

Abstract 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.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 28723766
OWN - NLM
STAT- MEDLINE
DA  - 20170720
DCOM- 20170728
LR  - 20170728
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 29
DP  - 2017 Jul
TI  - Lady with wings: a case report of giant neurofibromatosis type I.
PG  - e7523
LID - 10.1097/MD.0000000000007523 [doi]
AB  - 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 cafe-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.
FAU - Maharjan, Suraj
AU  - Maharjan S
AD  - Department of Hand and Foot Surgery, The First Hospital of Jilin University,
      Changchun, Jilin Province, P.R. China.
FAU - Li, Xiucun
AU  - Li X
FAU - Cui, Jianli
AU  - Cui J
FAU - Liu, Yang
AU  - Liu Y
FAU - Lu, Laijin
AU  - Lu L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - AIM
SB  - IM
MH  - Adult
MH  - Back/diagnostic imaging/pathology/surgery
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - Neurofibromatosis 1/*diagnosis/pathology/*surgery
MH  - Reconstructive Surgical Procedures
MH  - Skin Neoplasms/*diagnosis/pathology/*surgery
EDAT- 2017/07/21 06:00
MHDA- 2017/07/29 06:00
CRDT- 2017/07/21 06:00
AID - 10.1097/MD.0000000000007523 [doi]
AID - 00005792-201707210-00031 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Jul;96(29):e7523. doi: 10.1097/MD.0000000000007523.