Fehlbildungen der Kieferhöhle bei Neurofibromatose Typ 1

Abstract

Malformations of the face are frequently presented as case reports in the literature. Emphasis is given to the elephantiasis-like tumor growth of the face in certain patients with NF1. The underlying pathology has not yet been fully understood. This report provides evidence that in the midfacial region the overgrowth is predominantly caused by the plexiform neurofibroma itself and that the bones can even be hypoplastic and show scoliosis-like malformation compared to the nonaffected side. These findings are relevant when debulking procedures of the face are planned for NF1 patients.

Sphenoid Bone Pneumatisation on Lateral Cephalograms of Patients With Neurofibromatosis Type 1

“…Altered paranasal sinuses in NF1. Systematic studies on the radiological morphology of paranasal sinuses in the context of NF1 were performed for the maxillary sinus (40). The in vivo 35: 349-361 (2021) results suggest the relationship between unilateral hypoplastic maxillary sinus and orbital deformation of the same side.…”

“…These radiological signs indicate that the tumour may have grown beyond the orbit into the face. In general, the cheek is also largely infiltrated by the tumour, which typically grows in continuity with the orbital mass (39,40,67). From this established constellation of morphological findings, one can deduce that the hypoplastic maxillary sinus in NF1 is usually not an independent or 'spontaneous' event.…”

“…We hypothesised that the disease influences pneumatisation of the sphenoid sinus. Considering earlier works on skeletal morphology of the paranasal sinuses in neurofibromatosis (39,40), we assumed that sphenoid pneumatisation is less pronounced in NF1 patients, especially in individuals with trigeminal PNF (41).…”

Reconstruction of Sphenoid Wing Dysplasia with Pulsating Exophthalmos in a Case of Neurofibromatosis Type 1 Supported by Intraoperative Navigation Using a New Skull Reference System

“…1 Usually, this manifestation occurs unilaterally and is often associated with plexiform neurofibromas in the distribution of the trigeminal nerve. 2 However, Riccardi reported that sphenoid wing dysplasia can occur either with or without a peripheral neurofibroma (pNF). 3 Jackson et al 4 classified orbitotemporal neurofibromatosis into three groups (group 1, orbital soft-tissue involvement only with a seeing eye; group 2, orbital soft-tissue and significant bone involvement with a seeing eye; and group 3, orbital soft-tissue and significant bone involvement with a blind or absent eye).…”

Commentary

“…1 Usually, this manifestation occurs unilaterally and is often associated with plexiform neurofibromas in the distribution of the trigeminal nerve. 2 However, Riccardi reported that sphenoid wing dysplasia can occur either with or without a peripheral neurofibroma (pNF). 3 Jackson et al 4 classified orbitotemporal neurofibromatosis into three groups (group 1, orbital soft-tissue involvement only with a seeing eye; group 2, orbital soft-tissue and significant bone involvement with a seeing eye; and group 3, orbital soft-tissue and significant bone involvement with a blind or absent eye).…”