(VON RECKLINGHAUSEN’S DISNEUROFIBROMATOSISEASE)
NEUROFIBROMATOSIS (VON RECKLINGHAUSEN’S DISEASE)
- Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes..
Neurofibromatosis type 1
- The clinical criteria used to diagnose NF1 are as follows, in the absence of alternative diagnoses:
- Six or more café-au-lait spots or hyperpigmented macules =5 mm in diameter in prepubertal children and 15 mm postpubertal
- Axillary or inguinal freckles (>2 freckles)
- Two or more typical neurofibromas or one plexiform neurofibroma
- Optic nerve glioma
- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist
- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis
- First-degree relative (eg, mother, father, sister, brother) with NF1.
Neurofibromatosis type 2
- It is a genetic disorder marked by the predisposition to develop a variety of tumors of the central and peripheral nervous systems. In contrast to neurofibromatosis type 1 (NF1), NF2 produces a paucity of cutaneous manifestations.
- Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios :
- Bilateral vestibular schwannomas
- A first degree relative with NF2 and Unilateral vestibular schwannoma or Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
- Unilateral vestibular schwannoma and Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
- Multiple meningiomas and Unilateral vestibular schwannoma or Any two of: schwannoma, glioma, neurofibroma, cataract.
Difference b/w Schwannoma & Neurofibroma
Schwannoma (or Neurilemmoma)
- are true encapsulated neoplasm composed of schwann cells.
- It compresses the nerve of origin.
- There is a plane of cleavage separating the nerve from the mass.
- are unencapsulated benign neoplasm of schwann cells and fibroblasts.
- The tumor involves the nerve. Grossly it appears as expanded nerve.
- It is composed of mixture of schwann cell and fibroblast and contains axons within it.
- It can not be demarcated from the nerve therefore can not be removed without sacrificing the nerve.
Difference between NF-1 and NF-2:
NFl gene on chromosome 17 causes
NF2 gene on chromosome 22q.
von Recklinghausen’s disease. The NFl
NF2 encodes a protein called
gene is a tumor-suppressor gene; it encodes a protein, neurofibromin
neurofibromin 2, schwannomin,or merlin
cutaneous neurofibromas, pigmented
lesions of the skin called café au lait
spots, freckling in non-sun-exposed
areas such as the axilla, hamartomas
of the iris termed Lisch nodules, and
pseudoarthrosis of the tibia
Multiple café au lait spots and
peripheral neurofibromas occur
Aqueductal stenosis with
hydrocephalus, scoliosis, short stature,
hypertension, epilepsy, and mental
retardation may also occur.
A characteristic type of cataract,
juvenile posterior subcapsular
lenticular opacity, occurs in NF2
|Patients with NF1 are at increased
risk of developing nervous
system neoplasms, including plexiform
neurofibromas, optic pathway gliomas
may undergo secondary malignant
degeneration and become
|NF2 is characterized by the
development of bilateral vestibular
schwannomas in >90% of
individuals who inherit the gene
Patients with NF2 also have a
predisposition for the development
of meningiomas, gliomas, and
schwannomas of cranial and spinal
- Neurofibromatosis shows which of the Autosomal Dominant type of inheritance.
- Neurofibromatosis may be associated with Cataract, Scoliosis, Hypertrophy of limb and Neurofibroma.
- Neurofibromatosis-1 is asociated with family history, Optic Glioma and Axillary Freckles.
- Optic Gliomas are the most common intracranial tumors of Neurofibromatosis 1.
- Neurofibromatosis type 2 is associated with Bilateral Acoustic Neuroma, Cafe-au-lait spots, Axillary Freckling, Lisch Nodule, Meningioma
- Gene for NF-2 is located on chromosome 22.
- Neurofibroma are unencapsulated and needs to be resected along the nerve fibres.
- Neurofibromatosis presents as Elephantiasis neuromatodes, Plexiform neuroma,Von Recklinghausen’s disease.
- Plexiform neurofibromatosis commonly affects Trigeminal Nerve.
- Neurofibromatosis may be associated with Pheochromocytoma.
- The pathognomic sign of Neurofibromatosis is Axillary Freckling.
- Scoliosisis is the MOST common skeletal manifestation in Type-1 Neurofibromatosis.
- Juveile Myelomonocytic Leukemia is the most common tumour associated with Neurofibromatosis -1 (NF-I) in a child.
- Rib notching,Pseudarthrosis may be seen in Neurofibromatosis.
- Wide neural foramina is associated with Neurofibromatosis.-I.
- Ependymomas are commonly associated with Neurofibromatosis-II.
- A 22-year-old patient, Sreeraj presents with multiple neural tumors, pigmented iris hamartomas, and numerous tan macules on his skin. He informs the physician that his father, as well as one uncle and his paternal grandfather, had a similar condition. This patient likely suffers from Neurofibromatosis.-I.