Nevus Anemicus as Indication of Neurofibromatosis Type 1 in Childhood

Vaassen, Pia; Rosenbaum, Thorsten

doi:10.1055/s-0035-1550700

Cited by 3 publications

(4 citation statements)

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“…cally related to NF1 have been identified, including: nonocular manifestations such as mixed vascular hamartomas, anemic nevi, unidentified bright objects on brain magnetic resonance imaging, the NF1-related typical neuropsychological phenotype, and ocular manifestations such as choroidal patches and retinal vascular abnormalities (RVAs). [2][3][4][5][6][7][8][9] Large vessel abnormalities are a well-recognized manifestation of NF1. Aneurysms or stenoses of the aortic, renal, and mesenteric arteries are the most common vascular lesions; however, more recently RVAs have been reported as highly associated to NF1.…”

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confidence: 99%

“…Recently, several additional clinical features specifically related to NF1 have been identified, including: nonocular manifestations such as mixed vascular hamartomas, anemic nevi, unidentified bright objects on brain magnetic resonance imaging, the NF1-related typical neuropsychological phenotype, and ocular manifestations such as choroidal patches and retinal vascular abnormalities (RVAs). 2–9…”

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confidence: 99%

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Retinal Vascular Abnormalities Related to Neurofibromatosis Type 1

Parrozzani

Frizziero

Trainiti

et al. 2021

Retina

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Purpose: To analyze and classify neurofibromatosis Type 1 (NF1)-related retinal vascular abnormalities (RVAs), their natural history and correlation with disease severity, in a large cohort of patients. Methods: This was an observational longitudinal study with prospective enrollment. Four hundred and seventy-three patients affected by NF1 and 150 age-matched healthy subjects were consecutively enrolled. Retinal vascular abnormalities were detected by means of near-infrared reflectance and studied by optical coherence tomography angiography. The superficial vascular plexus and the deep vascular complex (DVC) were quantitatively and qualitatively analyzed. Results: We identified RVAs in 82 of 473 (17%) NF1 patients, but in none of the 150 healthy subjects. A comparison revealed that NF1 patients with RVAs showed a higher number of NF1 diagnostic criteria (4.3 ± 1.5 vs. 3.9 ±1.5, respectively; P = 0.02) than patients without RVAs. Three different RVA types were identified on optical coherence tomography angiography: macrovascular angiomatosis of the sole superficial vascular plexus; macrovascular angiomatosis of the superficial vascular plexus combined with microvascular angiomatosis of the deep vascular complex; and combined macrovascular angiomatosis of both superficial vascular plexus and deep vascular complex. The prospective analysis of optical coherence tomography angiography images showed no significant longitudinal evolution of RVAs (mean follow-up: 3.7 ± 2.8 years). A single patient developed a de novo single RVA, and two RVAs showed detectable changes during follow-up. Conclusion: In NF1 patients, RVAs are a characteristic sign that correlates with a more severe systemic disease expression, usually remaining stable during time. Optical coherence tomography angiography allows for the identification of different RVAs subtypes.

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confidence: 99%

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confidence: 99%

Retinal Vascular Abnormalities Related to Neurofibromatosis Type 1

Parrozzani

Frizziero

Trainiti

et al. 2021

Retina

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“…Although the correlation between NA and NF1 is still unclear, NA seems to have a much higher prevalence in NF1 patients than in the healthy population [15]. Some authors therefore suggest that the presence of NA might be helpful in making an early diagnosis of NF1 in young children [17,18].…”

Section: Cutaneous Findingsmentioning

confidence: 99%

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Peduto

Zanobio

Nigro

et al. 2023

Cancers

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Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, with a birth incidence of approximately 1:2000–3000, caused by germline pathogenic variants in NF1, a tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK pathway. This explains why NF1 is included in the group of RASopathies and shares several clinical features with Noonan syndrome. Here, we describe the main clinical characteristics and complications associated with NF1, particularly those occurring in pediatric age. NF1 has complete penetrance and shows wide inter- and intrafamilial phenotypic variability and age-dependent appearance of manifestations. Clinical presentation and history of NF1 are multisystemic and highly unpredictable, especially in the first years of life when penetrance is still incomplete. In this scenario of extreme phenotypic variability, some genotype–phenotype associations need to be taken into consideration, as they strongly impact on genetic counseling and prognostication of the disease. We provide a synthetic review, based on the most recent literature data, of all known genotype–phenotype correlations from a genetic and clinical perspective. Molecular diagnosis is fundamental for the confirmation of doubtful clinical diagnoses, especially in the light of recently revised diagnostic criteria, and for the early identification of genotypes, albeit few, that correlate with specific phenotypes.

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“…El NA está presente en un 28% de pacientes con NF1, incluso algunas series describen hasta en 40% de los casos. Este hallazgo es típico en pacientes menores de 10 años, no así en adultos, ya que desaparecería con el tiempo o su reconocimiento es más difícil (16,17) . El NA está ausente en otros síndromes que suelen confundirse con NF1, como el síndrome de Legius y las MCCL familiar.…”

Section: Nevo Anémico (Na)unclassified

Neurofibromatosis tipo 1. Más allá de las manchas café con leche: ¿es necesario actualizar criterios?

et al. 2022

Rev. Hosp. Clín. Univ. Chile (En línea)

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Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own.

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Nevus Anemicus as Indication of Neurofibromatosis Type 1 in Childhood

Cited by 3 publications

References 0 publications

Retinal Vascular Abnormalities Related to Neurofibromatosis Type 1

Retinal Vascular Abnormalities Related to Neurofibromatosis Type 1

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Neurofibromatosis tipo 1. Más allá de las manchas café con leche: ¿es necesario actualizar criterios?

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