Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

Lara‐Corrales, Irene; Moazzami, Mitra; García‐Romero, María Teresa; Pope, Elena; Parkin, Patricia C.; Shugar, Andrea; Kannu, Peter

doi:10.1177/1203475417708163

Cited by 10 publications

(13 citation statements)

References 9 publications

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“…20 Recently, a study of 60 children led by Lara-Corrales and colleagues further characterized mosaic neurofibromatosis, with 65% of mosaic neurofibromatosis children presenting with localized pigmentary changes only and 16.7% presenting with plexiform neurofibromas. 23 Compared with the characteristics described in the literature of pediatric patients with mosaic neurofibromatosis, our data carry a number of notable similarities and differences. Our study agrees with the literature in that children with mosaic neurofibromatosis most commonly present with pigmentary abnormalities.…”

Section: Discussionmentioning

confidence: 55%

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents

Hom

Moodley²,

Rothner

et al. 2019

J Child Neurol

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Background: Segmental neurofibromatosis was initially described by Miller and Sparks (1977) as manifestations of neurofibromatosis limited to a dermatomal, localized distribution. Now termed mosaic neurofibromatosis, previous literature described this disease in children and adolescents with individual case reports and small-numbered case series. This study presents a large series of children and adolescents with mosaic neurofibromatosis. Methods: A retrospective chart review of a single institution medical record database was performed on all cases of mosaic neurofibromatosis diagnosed between the years 1998 and 2017. Eligible subjects were determined by 2 criteria: (1) segmental or unilateral expression of one of more signs of NF I according to those outlined in the NIH criteria and (2) were under 18 years of age at the time of diagnosis. Select information extracted include location of clinical features, NF manifestations (neurofibromas, plexiform neurofibromas, café-au-lait spots, freckling, Lisch nodules), presence of a diffuse area of cutaneous hyperpigmentation, and other significant medical conditions. Results: Sixty-eight cases met established criteria. Average age at diagnosis was 8.28 ± 4.47 years. Thirty-seven (54%) were male and 31 (46%) were female. Localization of the dermatologic manifestations is as follows: left side in 28 (41%) cases, right side in 32 (47%) cases, and bilateral in 8 (11%) cases. Café-au-lait lesions appeared in 64 (94%) of cases and 14 (21%) had axillary and inguinal freckling. Conclusions: This study expands our understanding of the disease characteristics seen in children and adolescents with mosaic neurofibromatosis and confirms the need to focus on pigmentary changes in children with mosaic neurofibromatosis.

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Section: Discussionmentioning

confidence: 55%

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents

Hom

Moodley²,

Rothner

et al. 2019

J Child Neurol

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“…2 Individuals with MNF1 may have gonadal mosaicism and offsprings with complete NF1. 9 In the individual case reports of a systematic review on MNF1, majority of cases had neurofibromas only. Also, the cases that presented at the oldest age was the group with neurofibromas only.…”

Section: Discussionmentioning

confidence: 99%

Late Onset Segmental Neurofibromatosis (Mosaic Neurofibromatosis Type 1): A Case Report with Review of Literature

2019

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Segmental neurofibromatosis (SNF) is a rare manifestation of neurofibromatosis. Very few cases have been reported in older population. Here, we present a case of 73 year old male with four years history of multiple, skin coloured, dome shaped, soft nodules situated over left lumbar region. The histopathological evaluation of the excised nodule revealed neurofibroma. Recognition of this condition is important, as there may be associated systemic involvement, malignancies and possibility of transmission to the offspring.

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“…However, these criteria do not apply well to the MNF1 cohort as several patients had manifestations on several areas of the body sometimes crossing the midline. Lara-Corrales et al suggested that the ideal way to con rm the diagnosis of MNF1 is a positive NF1 analysis on DNA from affected tissue together with a negative NF1 analysis on DNA from blood (21). However, one of the patients from our MNF1 cohort had a positive NF1 analysis on DNA from both affected tissue and blood, though in a mosaic state and two patients had a negative NF1 analysis on DNA from a plexiform neuro broma and from a CAL spot, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…Another case had a daughter with generalized NF1 and two unaffected children consistent with gonadal mosaicism (24). (21,22). In 11 cases a pathogenic NF1 variant was detected; an intragenic variant in nine cases and a microdeletion in two cases (21,22).…”

Section: Clinical Featuresmentioning

confidence: 98%

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Clinical Features and Disease Severity in Patients With Mosaic Neurofibromatosis Type 1: A Single-Center Study and Literature Review

Raundahl¹,

Gregersen

Handrup

et al. 2020

Preprint

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Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications.Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed.Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

Cited by 10 publications

References 9 publications

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents

Late Onset Segmental Neurofibromatosis (Mosaic Neurofibromatosis Type 1): A Case Report with Review of Literature

Clinical Features and Disease Severity in Patients With Mosaic Neurofibromatosis Type 1: A Single-Center Study and Literature Review

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