NEUROFIBROMATOSIS

Defn.-is a hereditary disorder manifested by

numerous cutaneous neurofibromas, caf’e-au-
laitspots & axillary freckling.
NF1.- accounts for 85% of the cases.
-Autosomal dominant disorders.
-Incidence-1 in 3000 indivduals.
-half of the cases –Familial.
-the rest are new mutation.
-Highly variable in its expression.
Fig.1
 Clinical features
THE HALLMARKS are multiple CALS & assoc. cutaneous
neurofibromas.
Diagnostic criteria's.
-Six or more caf’e-au-lait macules.
-Two or more neurofibromas of any type or one plexiform
neurofibroma.
-Freckling in axillary or inguinal region.
-Optic glioma.
-Two or more Lisch nodules (iris hamartomas).
-A distinctive bony lesion (sphenoid dysplasia or thinning of
long bone cortex with or without pseudoarthrosis.
-A1st degree relative with NF1.
 .C/F cont.

 At least two of the clinical features

must be present to make the diagnosis.
 Highly specific & sensitive.
 <1 year 70% met the criteria.
 By 8 years 95% the criteria.
 By 20 years 100% the criteria.
 C/F cont.
Caf’e-au-lait spots
 flat,uniforlmely hyper pigmented macules
 25%of the normal population will have 2-3 CALS.
 the presence of >or=6CALS is highly suggestive of
NF1.
 95% of adults with NF1 have CALS.

Freckling
 often appears during early childhood.
 C/F cont.
Peripheral neurofibromas
Benign tumors (schwann cells,fibroblasts &mast cells).
Four types of neurofibrimas
1.Cutaneous neurofibromas.
-consist of soft fleshy tumors arising from cells of
peripheral nerve sheath.
-begin to appear just before or during adolescent.
-increase in size & numbers with age.
-Do not carry risk malignant transformation.
Often present as major cosmetic problems in adults.
-may have Purities with accelerated growth.
 C/F cont.
2. subcutaneous neurofibromas
- usually appears at the start of adolescent or early childhood.
-lesion present as a firm nodule along the course of peripheral nerve.
3. Nodular plaxiform
-appears as complex clusters along the proximal nerve roots &
major nerves.
-can cause vertebral erosion – compression of spinal cord.
4. Diffuse plexiform
-thought to be congenital lesion.
-Represent a major causes of morbidity, disfigurement & mortality.
-Usually involves multiple nerve fascicles-complete surgical resection is
extremely difficult.
-Plexiform neurofibromas can undergo malignant transformation to
malignant peripheral nerve sheath tumors.
NF1
 Lisch nodules
C/F cont.
raised often pigmented hamartomas of iris-relatively specific finding in NF1.
-

-detected in <10% of affected children<6 years & >90% in adults.

Bone abnormalities
 pseudoarthrosis & bone dysplasia.
 Long bone pseudoarthrosis occurs in 5% of pts with NF1.
 Pseudoarthrosis typically present in infants or young children as bowing of the tibia,-
thinning of cortex & #.
 result in to pathologic # .
 Approximately 505 of #s occur before 2 years of age.
 Vertebral defect.
 Sphenoid wing dysplasia.
 Short stature
 Scoliosis –occurs in 10-25% of affected individuals.6-10 yrs, kyphosis is the commones
Mgt. bracing or surgery.
 Tumors
C/F cont.
 Pts with NF1 develop both benign & malignant tumors at increased frequency.
 Over all risk malignancy-2-10%.
 Optic pathway glioma-commonest.( 15%of children <6yrs).
 Most children with NF1 & optic glioma have normal vision.
 1/3 become symptomatic with progresive vision loss.
 Screening is important.
Other CNS neoplasm's
 Astrocytomas & brainstem gliomas
Other non-cns tumors
 CML of childhood,neurofibrosarcoma & pheochromocytoma.
Neurologic abnormalities
 Cognitive deficites,learning disabilities & seizures.
 Macrocephaly-(25-50%of children with NF10
 Management
- No specific treatment .
-Monitor for developmental progress.
-A careful neurologic examinations-yearly.
-Academic support.

Surgery
-When neurofibroma increase in size or causes pain-excision &biopsy
should be done.

-Solely excising symptomatic mass lesions.

-Operative correction of is often only partial, as total excision of large
lesion in the facial region may create extensive deformity.