Child Dental Patient with NEUROFIBROMATOSIS

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   the Child Dental Patient with


 

 

Neurofibromatosis

 

Definition


  • a group of three different tumor disorders including:

neurofibromatosis type I (NF1)
(von Recklinghausen's disease)

neurofibromatosis type II (NF2)

neurofibromatosis – type III (NF3) (schwannomatosis)

    

  • show different gene origination and clinical characteristics but exhibit the same autosomal dominant mode of inheritance.

 

Etiology


  • NF1 - the gene locus is 17q11.2
  • NF2 - gene mutations in a specific region of chromosome 22q
  • NF3 - mutations of the genes SMARCB1 and LZTR1 of chromosome 22q

 

NF1+ NF2: approximately 50% of cases - new mutations
NF3 : about 10% are familial

 

Epidemiology


  •  NF1 – the most common (about 90% of cases of NF)

 

Prevalence

Incidence

  • NF1 – 1:25,000
  • NF2 – 1:60,000
  • NF3 - ?

 

  • NF1 – 1: 3,000-4,000
  • NF2 – 1:25,000-40,000
  • NF3 – 1: 40,000- 1,700,000

 

NF1 – signs and symptoms


  • Multiple cafe au lait spots (flat, light brown spots on the skin) – begin in early childhood, increase in size and number with age.
  • Axillary and inguinal freckling - appears in late childhood, occurs in clusters in skin folds.
  • Lisch nodules (pigmented hamartomas of the iris) - don't affect vision.
  • Multiple neurofibromas (benign complex tumors from peripheral nerve sheaths) –  can be localized /plexiform .

 

NF1 – signs and symptoms (2)


  • Bone deformities - scoliosis or bowed lower leg.
  • Optic glioma - appears by age 3, rarely in late childhood and adolescence, and almost never in adults.
  • Learning and writing disabilities - usually mild;
  • ADHD - is common.
  • Epilepsy
  • Macrocephaly
  • Short stature

 

NF1


  • One of the most frequent human genetic diseases, with no sex or race predilection
  • Occurs in 1:200 inhabitants with mental retardation
  • Variable expressivity:
    • 60% - mild cases
    • 20% - moderate
    • 20% - severe
  • Progressive condition:
    • Increase in size and number of localized neurofibromas  with age (especially during puberty and pregnancy)
    • plexiform neurofibromas – increase in size (can cause disfigurment) and have risk of malignancy!!!

 

NF1 – head and neck findings


  • Multiple localized neurofibromas – scalp, cheek, neck and oral cavity
  • Facial asymmetry – due to plexiform neurofibromas on the face
  • Facial disfigurement – due to hypoplasia or hyperplasia of the jaws, the zygomatic bone and the temporomandibular joint.
  • Exophthalmia - caused by sphenoid wing dysplasia.

 

NF1 - oral findings


  • Lengthening of fungiform papillae – the most frequent finding
  • Localized oral neurofibromas
    • asymptomatic nodules covered by normally colored mucosa
    • most commonly in tongue
    • may determine impairment of motor function of nerves VII or IX or the sensitivity of the nerve V
    • may cause malposition of the teeth (partial or total retention)
  • Supernumerary/missing teeth
  • Macroglosia

 

Oral radiographic findings


  • Enlarged mandibular canal, mandibular foramen and mental foramen.
  • Well demarcated unilocular, but occasionally multilocular, radiolucent lesions (intraosseously developed neurofibromas)
  • lengthening, narrowing and rarefaction of coronoid and arti-cular process
  • deepening of sigmoid notch

 

Important to know


  • Oral manifestations – are frequent  (about 70% of NF1 patients)
  • NF1 can determine esthetic and functional problems (mastication, speech)
  • Orthodontic treatment can be performed
  • Gingival neurofibromas  can be confused with periodontal disease and can cause subsequent periodontitis
  • Difficulties in oral surgical procedures and in the maintenance of teeth
  • Longterm follow-up is mandatory because of the potential for local complications and the risk of malignant tumors.

 

NF2 – signs and symptoms


  • Generally appear in the late teen and early adult years
  • Multiple schwannomas and meningiomas, which bilaterally affect the vestibular nerve, potentially leading to hearing loss and deafness.
  • Initial symptoms:
    • hearing loss frequently unilateral
    • tinnitus
    • dizziness, loss of balance.
  • In later stages of the disease - vomiting or true vertigo.

 

NF2 – signs and symptoms


  • headaches
  • seizures
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intracranial meningioma

  • pain
  • muscle weakness
  • paraesthesia
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spinal tumour

  • cutaneous tumour
  • reduced visual acuity due to cataract, optic nerve meningioma, extensive retinal hamartomas

 

NF2 – oral findings


  • in cases of impaired vision:
    • high prevalence of caries (due to poor oral hygiene)
    • dental traumatic injuries in permanent and primary dentition

 

Dental management


  • Hearing impairment can cause:
    • problems in communications during dental appointments
    • increased dental fear and anxiety  
  • Special communication methods  in achieving patient's cooperation during the dental treatment:
    • ”Tell-show-do” technique
    • Tactile finger spelling
    • Use of laptop and tablet - voice command, “text-to-speech” operating systems, and high or reverse contrast

 

NF3 – signs and symptoms


  • usually appear in early adulthood  
  • multiple schwannomas (nerve sheaths tumors) of the peripheral nervous system without concomitant involvement of the vestibular nerves
    • there are throughout the body or in isolated regions
  • chronic pain – the most common symptom
    • ranges from mild to severe
  • dysesthesia and paresthesia may also be present.
  • common localizations: the spine, peripheral nerves, and the cranium.

 

NF3 – oral features


  • Only 1% of all schwannomas are located in the oral cavity
  • The treatment of choice for solitary schwannomas is conservative surgical excision.