medical literature defines recklinghausen 's disease , also known as neurofibromatosis type 1 ( nf1 ) , as an autosomal dominant disease characterised by abnormalities affecting tissues derived from the neural crest .
researchers indicate that the disease is directly caused by mutation of the neurofibrin 1 gene located on chromosome 17q11.2 .
studies carried out by doctors from france and finland show that benign neurofibromatosis type 1 is connected with homozygosis of constitutional mutations in one of the genes responsible for dna repair by way of deleting unpaired nucleotides such as mlh1 , msh2 , msh6 and pms2 [ 2 , 3 ] .
recklinghausen 's disease is diagnosed when at least 2 out of the 7 following criteria are met : first degree relative afflicted with neurofibromatosis type 1 , min . 6 caf - au - lait spots with a diameter exceeding 5 mm ( children ) and 15 mm ( adults ) , min . 2 neurofibromas of any type or one plexiform neurofibroma , freckles and/or discolouration found on covered parts of the body , optic nerve glioma , min .
two lisch nodules as well as characteristic bone lesion such as sphenoid wing dysplasia or thinning of the long bone cortex . according to a study carried out in 2007 ,
the differential diagnosis of nf1 should focus on excluding such disorders as rare mosaic or segmental neurofibromatosis type 1 , neurofibromatosis type 2 , schwannomatosis , noonan syndrome , watson phenotype , caf - au - lait spots inherited as an autosomal dominant condition , autosomal dominant mccune - albright syndrome , leopard syndrome , klippel - trnaunay syndrome , proteus syndrome , multiple lipomas , bannayan - riley - ruvalcaba syndrome , fibromatosis , multiple endocrine neoplasia syndrome type 2b as well as homozygosity for one of the genes responsible for causing hereditary non - polyposis cancer of the colon .
the study aimed at identifying changes in the masticatory organ and specifying possibilities of orthodontic treatment of a patient suffering from recklinghausen 's disease .
the present study describes a case of a 9-year - old girl suffering from recklinghausen 's disease with neurofibromatosis of the face , salivary gland and external ear in the form of an extensive tumour . in consequence ,
the extraoral examination of facial features revealed that the central part of the chin had moved towards the unaffected side of the face , while the angle of the mouth lowered significantly towards the affected side of the face ( fig .
the clinical intraoral examination of the patient revealed right buccal occlusion and lingual occlusion on the opposite side ( fig .
the computer - assisted tomography examination identified acute atrophy of the maxilla , zygomatic bone , mandible alveolar ridge and right base of the skull ( fig .
3a , b ) . despite a number of surgical procedures aimed at removing the tumour ( the first procedure was when the patient was 6 years old ) ,
the patient received orthodontic treatment of the co - existing malocclusion which was to prevent further mandible movement towards the right - hand side of the face  a metzelder appliance ( removable orthodontic appliance for the upper and lower jaw ) was used .
once placed in the mouth , this functional appliance forced proper placement of the mandible versus the maxilla .
the proper spatial relation between the mandible and maxilla was specified and recorded with a construction bite .
the treatment lasted 3 years , yet although the appliance was used conscientiously by the patient , no significant clinical improvement was identified .
extraoral photographs of the patient intraoral photograph of the patient computer - assisted tomography image of patient 's skull
according to researchers , neoplasia is an inherent characteristic of a phenotype seen in patients suffering from recklinghausen 's disease ; therefore , it is the main factor influencing the selection of a therapy .
although there are certain single attempts of pharmacological treatment of ganglioneurofibromas at their early development stage , it is agreed that , in fact , no preventive actions are possible .
hence , in the case of neurofibromatosis type 1 , reconstruction and aesthetic procedures are widely applied in treating the disease .
the aim of the orthodontic appliance used in the present case was , among others , to improve facial features by making a functional change in the position of the mandible .
recklinghausen 's disease in the oral cavity often manifests with gingival overgrowth , erosions , increased proneness to caries and to attachment loss due to problems with maintaining proper hygiene .
another phenomenon observed in the disease is a lack of teeth buds , teeth migration or intrusion . it is often underlined
that until the skeletal development is complete , prosthetic restorations which could impact bone growth should not be used .
the best solution seems to be the one offered by temporary restorations , the use of which should be consulted with an orthodontist .
it was also suggested that in many cases orthodontic treatment suffices , as restoration may be combined with the treatment of existing malocclusion using orthodontic appliances .
the appliances should be constructed with consideration to the missing teeth and they should restore them , prevent teeth migration , maintain space for erupting permanent teeth , restore correct articulation and occlusal conditions and stimulate maxilla and mandible bone development . in the case of the described patient , orthodontic treatment with the removable appliance prevented further intensification of the malocclusion and it was not necessary to introduce any other elements to the metzelder appliance .
surgical treatment of a patient with a hemimandibular hyperplasia was conducted in the maxillo - facial surgery department in pozna . the 18-year - old patient with right hemimandibular hyperplasia underwent ( based on pre - operative and operative measurements ) a correction procedure 
sagittal mandibular osteotomy at the side of the hyperplasia combined with dissection of the inferior alveolar nerve and genioplasty .
the correction of the occlusion involved le fort i osteotomy . in the analysed case ,
the surgical action consisted in its enucleation , but despite the procedure relapses occurred requiring repeated surgical procedures .
studies conducted in 2007 suggested that in the case of children suffering from recklinghausen 's disease deciduous teeth erupt earlier .
researchers explained this phenomenon by the activity of osteoclasts , which are more prone to migrate and proliferate in comparison with the cells of healthy individuals .
this leads to a faster alveolar process of bone resorption around deciduous teeth buds and thus earlier eruption of the teeth .
the applied orthodontic appliance , owing to its construction , could be used by the patient during the entire process of the functional treatment , regardless of the presence of particular teeth during the teeth replacement stage and did not inhibit the functioning of the masticatory organ . during visits to the orthodontic surgery , special surfaces in the acrylic mass of the appliance
finnish scientists made a groundbreaking discovery of a sex - dependent characteristic in the case of patients suffering from neurofibromatosis type 1 .
based on an analysis of pantomographic images of 55 patients ( 29 women and 26 men ) , the scientists proved that cement dysplasia around lower teeth root apexes affects only women .
additionally , they also pointed to the fact that 85% of cases showed enlargement of the mandibular foramen and canal .
although the changes often accompany plexiform tumours located in this area , it is a characteristic of recklinghausen 's disease and may be taken into consideration in differential diagnostics also in cases in which neoplastic changes are not present in those anatomical areas .
radiological testing of the patient showed no dysplastic cement changes around teeth roots , but it did show slightly enlarged mandibular foramina and canals .
considering the malocclusion they are suffering from , children diagnosed with recklinghausen 's syndrome should undergo orthodontic consultation and , if necessary , should be treated using removable appliances , so that the malformation of the masticatory organ does not intensify .
 in the report the authors present changes in the masticatory organ in the case of a 9-year - old girl affected with recklinghausen 's disease . the characteristics included neurofibromatosis of the face , salivary gland and external ear in the form of an extensive tumour . 
 the disease also resulted in acute right hemifacial hypertrophy . 
 the computer - assisted tomography examination identified acute atrophy of the zygomatic bone , maxilla , mandible alveolar ridge and right base of the skull . 
 the clinical intraoral examination of the patient revealed right buccal occlusion and lingual occlusion on the opposite side . 
 the patient underwent functional orthodontic treatment of the co - existing malocclusion with an orthodontic appliance for the upper and lower jaw which was to prevent further mandible movement towards the right . according to researchers 
 , neoplasia is an inherent characteristic of a phenotype seen in patients suffering from recklinghausen 's disease . 
 therefore , it is the main factor influencing the selection of a therapy . 
 although there are certain single attempts of pharmacological treatment of ganglioneurofibromas at their early development stage , it is agreed that , in fact , no preventive actions are possible . 
 hence , in the case of neurofibromatosis type 1 , reconstruction and aesthetic procedures are widely applied in treating the disease . 