Craniofacial bone alterations in patients with neurofibromatosis type 1

Chauvel-Picard, J.; Lion‐François, Laurence; Beuriat, Pierre-Aurélien; Paulus, Christian; Szathmari, A.; Mottolèse, C.; Gleizal, A.; Rocco, F. Di

doi:10.1007/s00381-020-04749-6

Cited by 12 publications

(12 citation statements)

References 53 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…К облигатным признакам НФ I относят множественные нейрофибромы, узелки Лиша, гиперпигментные пятна на коже цвета кофе с молоком, веснушки в подмышечных впадинах и паховых складках (симптом Кроува) [10,11]. Также для пациентов характерны аномалии развития костной ткани: вальгусные стопы, формирование ложных суставов, искривление длинных костей, сколиоз, дисплазия скуловой кости, макроцефалия [12,13]. Заболевание отличается высокой вариабельностью клинической картины: комбинация фенотипических проявлений и степень их выраженности могут значительно различаться как в общей популяции больных, так и между членами одной семьи [10].…”

Section: нейрофиброматоз I типаunclassified

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Makashova

Карандашева

Zolotova³

et al. 2022

Neuromuscular Diseases

View full text Add to dashboard Cite

Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are characterized by gradual phenotype development and have a partially overlapping spectrum of manifestations, which complicates diagnosis establishing, especially at the stage of clinical onset. At the same time, the emergence of new pathogenetic therapy and the high risk of transmission to descendants actualize the necessity of early diagnosis. DNA tests allow us to reliably confirm the presumed diagnosis. This article presents a review of neurofibromatoses, their clinical features and courses, modern diagnostic criteria and indications for DNA tests.

show abstract

Section: нейрофиброматоз I типаunclassified

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Makashova

Карандашева

Zolotova³

et al. 2022

Neuromuscular Diseases

View full text Add to dashboard Cite

show abstract

“…Abnormal growth of the skull associated with sphenoid wing lesions in children with NF1 may also lead to progressive facial deformities (Jacquemin et al 2002). SWP is thought to result from a primary ossification defect with poor mesodermal development and bone formation (reviewed by Alwan et al 2005;Chauvel-Picard et al 2020). However, SWP may also occur concurrent with orbital-periorbital plexiform neurofibromas (reviewed by Avery et al 2017).…”

Section: Sphenoid Wing Dysplasiamentioning

confidence: 99%

“…SWD can be asymptomatic and is diagnosed by skull radiographs or CT scans. SWD is relatively rare in the general population, and over 50% of cases are associated with NF1 (reviewed by Chauvel-Picard et al 2020 ). SWD may become progressive and cause disruption of the orbit and consequent pulsating exophthalmos.…”

Section: Less Common Disease Features In Children With Nf1mentioning

confidence: 99%

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Kehrer‐Sawatzki

Cooper

2021

Hum Genet

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as skin-fold freckling and Lisch nodules occur later during childhood whereas dermal neurofibromas are rare in young children and usually only arise during early adulthood. The NIH clinical diagnostic criteria for NF1, established in 1988, include the most common NF1-associated features. Since many of these features are age-dependent, arriving at a definitive diagnosis of NF1 by employing these criteria may not be possible in infancy if CALM are the only clinical feature evident. Indeed, approximately 46% of patients who are diagnosed with NF1 later in life do not meet the NIH diagnostic criteria by the age of 1 year. Further, the 1988 diagnostic criteria for NF1 are not specific enough to distinguish NF1 from other related disorders such as Legius syndrome. In this review, we outline the challenges faced in diagnosing NF1 in young children, and evaluate the utility of the recently revised (2021) diagnostic criteria for NF1, which include the presence of pathogenic variants in the NF1 gene and choroidal anomalies, for achieving an early and accurate diagnosis.

show abstract

“…A large number of craniofacial abnormalities have been reported in NF1. These alterations (more evident in adult patients) range from the most common sphenoid wing dysplasia to rarer findings, such as pure orbital, temporo-mandibular joint (TMJ) and/or dental deformities, a shorter mandible and/or maxilla, and a reduced cranial base length [86,87]. Some authors also suggested a relationship between these skeletal deformities and the presence of dural ectasia [88].…”

Section: Skull Bone Defects and Associated Dural Dysplasiamentioning

confidence: 99%

“…The posterior aspect of the orbit is generally more affected, making orbit dysplasia a side expression of the underlying sphenoid dysplasia; in rare cases, the other bones forming orbit walls can be primarily affected. Common symptoms are represented by pulsatile exophthalmos (due to the propagation of brain vessels' systolic pulsations to the eye globe), buphthalmos and visual impairment [86,89]. Ocular proptosis and buphthalmos are typically related to increased intraocular pressure, due both to the presence of sphenoid wing dysplasia (with/without middle cranial fossa herniation) and/or abnormal mesodermal tissue deposition in the canal of Schlemm (the anatomical site of aqueous humor resorption from the anterior ocular chamber) [93].…”

Section: Imaging Manifestation Of Orbital Involvementmentioning

confidence: 99%

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Russo

Cascone

et al. 2021

Cancers

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.

show abstract

Craniofacial bone alterations in patients with neurofibromatosis type 1

Cited by 12 publications

References 53 publications

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Contact Info

Product

Resources

About