2. • A Neurofibromatosis is an A.D.
genetically-inherited disorder in
which the nerve tissue grows
abnormally to
form tumors (neurofibromas) that
may be benign or may cause serious
damage by compressing nerves and
other tissues.

3. • Affects all neural crest cells (Schwann
cells, melanocytes and endoneurial
fibroblasts).

4. • Melanocytes also function
abnormally in this disease, resulting
in disordered skin pigmentation
and café au lait spots.

5. • Approximately half of cases are due
to de novo mutations and no other
affected family members are seen.
• It affects males and females equally.

6. Neurofibromatosis type 1 (NF 1)
• Also known as "von Recklinghausen
disease“
• Most common form of NF (90%)
• It occurs following the mutation
of neurofibromin on chromosome
17q11.2.

7. The diagnosis of NF1 is made if any two of
the following 7 criteria are met:
1. Two or more neurofibromas on or under the
skin, or one plexiform neurofibroma (a large
cluster of tumors involving multiple nerves);

8. 2.Freckling of the groin or the axilla 2-
3mm in diam .

9. 3 .Café au lait spots:(Hallmark of NF)
- Six or more measuring 5 mm in greatest
diameter in prepubertal individuals and over
15 mm in greatest diameter in postpubertal
individuals.

10. 4. Lisch nodules (hamartomas of iris), freckling
in the iris- 2 or more

11. 5. Tumors on the optic nerve, also known as an
optic glioma

12. 6. A distinctive osseous lesion such as sphenoid
dysplasia or cortical thinning of long bones
with or without pseudoarthrosis.

13. 7. A first degree relative with NF 1 whose
diagnosis was based upon these criteria.

14. • Macrocephaly in 30-50% of the pediatric
population without any hydrocephalus
• Epilepsy (seizures)
• Juvenile posterior lenticular opacity
• Scoliosis with or without kyphosis

15. • NF 1 also increases the risk of tumor
development, particularly, meningiomas, glio
mas and pheochromocytomas.
• hydrocoele
• early puberty

16. Neurofibromatosis type 2 (NF 2)
• Also called "central neurofibromatosis“
• Is results from mutation of the merlin (also
known as "schwannomin") in chromosome
22q12.i.e NF2 gene
• It accounts for only 10% of all cases of NF

17. • The disorder manifests in the following
fashion:
1. Bilateral acoustic neuromas :( tumors of
the vestibulocochlear nerve or cranial nerve 8
(CN VIII) also known as schwannoma),
the hallmark of NF 2 is hearing loss due
to acoustic schwanoma.

18. 2.
– headache
– balance problems, and peripheral vertigo due
to schwannoma and involvement of the inner ear
– facial weakness/paralysis due to involvement or
compression of the facial nerve.
– brain tumors, as well as spinal tumors.
– deafness and tinnitus

19. • NF 2 increases the risk
of meningiomas and ependymomas.

20. Schwannomatosis
• Schwannomatosis - mutation in both
chromosomes 17 and 22
• The schwannomas develop on cranial, spinal and
peripheral nerves.
• Chronic pain, and sometimes numbness, tingling
and weakness
• About 1/3 of patients have segmental
schwannomatosis, i.e.schwannomas are limited
to a single part of the body, such as an arm, a leg
or the spine.

21. • Unlike the other forms of NF, the
schwannomas do not develop on vestibular
nerves, and as a result, no loss of hearing is
associated with schwannomatosis.
• Patients with schwannomatosis do not have
learning disabilities related to the disorder.

22. Other variants
• Neurofibromatosis type 3
• Neurofibromatosis type 4
• Neurofibromatosis type 5

23. • Neurofibromatosis is considered a member of
the neurocutaneous
syndromes (phakomatoses).
• The phakomatoses also include Tuberous
sclerosis, Sturge-Weber syndroms , Von
Hippel-Lindau disease, Ataxia telengectesia,

24. Signs and symptoms
• Morbidity is often a result of plexiform
neuromas, optic gliomas, or acoustic
neuromas, but mortality can also be
associated with malignant transformation of
the neuromas, such as neurofibrosarcomas

25. • Learning disabilities or cognitive deficit
• Development of Epilepsy in affected
individuals
• Increases the risk of leukemia particularly in
children.
• Deafness
• Neoplasms- pheochromocytoma,
neurofibrosarcoma (malignant degeneration
of neurofibromas), Wilms tumour,
rhabdomyosarcoma, juvenile pilocytic
astrocytoma, carcinoid tumour, leiyomyoma,
leiyomyosarcoma

26. Diagnosis
• Fetus
-Chorionic villus sampling or amniocentesis can
be used
• MRI
• Slit lamp

27. Treatment
• There is no cure for the condition so the only
therapy for patients with neurofibromatosis is
to manage symptoms or complications.
• Surgery may be needed when the tumors
compress organs or other structures.
• Less than 10% of people with
neurofibromatosis develop cancerous
growths; in these cases, chemotherapy may
be successful.

28. • Genetic screening and counselling for families
with neurofibromatosis.

29. Cases
• In May 2011, a case was reported in the United
Kingdom in which a 15-month-old child who
turned out to have Neurofibromatosis type I was
misdiagnosed as being abused under the
assumption that the mother had Münchausen
syndrome, because the child gained weight while
in hospital and lost weight while at home. The
child was placed in foster care for 6 months and
then returned to his parents after he was
correctly diagnosed.

30. THANK YOU