Segmental neurofibromatosis: A report of 3 cases

Gabhane, Sushma Kashinath; Kotwal, Mrunmayi Nishikant; Bobhate, S. K.

doi:10.4103/0019-5154.60366

Cited by 18 publications

(20 citation statements)

References 9 publications

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“…SNF can present with only pigmentary changes, only neurofibromas, isolated plexiform neurofibromas, or both pigmentary changes and neurofibromas, as in our patient [6,7]. …”

Section: Discussionmentioning

confidence: 69%

Segmental neurofibromatosis presenting with congenital excessive skin folds

Helfand

Nouriel

Zisquit

et al. 2015

Dermatol Pract Concept

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Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb. We present a 5-month-old male referred to our clinic for evaluation of congenital excessive skin folds on the back. A mildly erythematous, poorly demarcated soft plaque was noted, consisting of excessive skin folds. A cluster of light brown hyperpigmented macules was seen overlying the plaque. A punch biopsy of the plaque confirmed a diagnosis of neurofibroma. Further investigation ruled out other manifestations of NF-1. The early onset of our patient’s neurofibroma and its gross appearance with redundant skin folds are all unusual features. To our knowledge, congenital excessive skin folds found in a single tumor have not been previously described in the literature as a manifestation of SNF. Clinicians should be educated about the possibility of congenital localized skin folds in association with SNF in order to identify the disease in infancy and monitor any changes in neurofibroma pathology.

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“…SNF can present with only pigmentary changes, only neurofibromas, isolated plexiform neurofibromas, or both pigmentary changes and neurofibromas, as in our patient [6,7]. …”

Section: Discussionmentioning

confidence: 69%

Segmental neurofibromatosis presenting with congenital excessive skin folds

Helfand

Nouriel

Zisquit

et al. 2015

Dermatol Pract Concept

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“…[ 5 ] [ Table 2 ] Clinically, it is divided into 4 groups [ Table 2 ]. [ 6 ] Segmental NF is a rare disorder with prevalence between 0.0014% and 0.002%. [ 7 ] It is a form of mosaicism, in which localized disease occurs due to postzygotic NF1 gene mutation located in proximal long arm of chromosome 17.…”

Section: Discussionmentioning

confidence: 99%

Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5

Khaladkar

Chauhan

Kalra

et al. 2018

Journal of Clinical Imaging Science

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Segmental neurofibromatosis type 5 (NF5) is a rare form of NF, in which the cutaneous and/or neural changes are confined to one region of the body. It is often underdiagnosed or undetected due to the absence of symptoms. Inheritance of NF is different from other types of NF. Intraosseous neurofibromas are rare tumors which develop from nerves supplying the periosteum or nerves following the intraosseous course. Plexiform neurofibroma with associated intraosseous neurofibroma is extremely rare. We report a case of plexiform neurofibroma in the left axilla of a 17-year-old female with associated intraosseous neurofibroma in adjoining left humerus.

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“…In most cases, lesions follow the lines of Blaschko. Lesions are usually unilateral (approximately 6% of cases are bilateral) and occupy single dermatome [1,2,11,12].…”

Section: Discussionmentioning

confidence: 99%

Segmental Neurofibromatosis

Ma¹,

Hu²

2015

N Engl J Med

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images in clinical medicineT h e ne w e ngl a nd jou r na l o f m e dicine n engl j med 372;10 nejm.org march 5, 2015 963A 4-year-old girl presented for evaluation of cutaneous nodules that had been present on the left side of her trunk since birth. She had no history of seizures or developmental delay, and there was no family history of similar cutaneous findings. Physical examination revealed numerous soft, nontender papules and nodules between 2 and 12 mm in diameter, distributed across the left upper abdomen (Panel A) and wrapping around to the left back (Panels B and C). The remainder of the physical examination was unremarkable; axillary freckles, café au lait macules, and Lisch nodules were not observed. Results of a biopsy of a nodule were consistent with a neurofibroma. The patient received a diagnosis of segmental neurofibromatosis, a variant of neurofibromatosis characterized by neurofibromas or café au lait macules (or both) that are confined to one body segment. Segmental neurofibromatosis results from a postzygotic mutation in the NF1 gene, leading to somatic mosaicism. The patient was scheduled for annual follow-up for surveillance of the nodules and any conditions that may be associated with neurofibromatosis. Because she has remained free from systemic complications of neurofibromatosis since birth, no specific treatment has been pursued. Her parents were offered genetic counseling on her behalf.

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Segmental neurofibromatosis: A report of 3 cases

Cited by 18 publications

References 9 publications

Segmental neurofibromatosis presenting with congenital excessive skin folds

Segmental neurofibromatosis presenting with congenital excessive skin folds

Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5

Segmental Neurofibromatosis

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