DR. DIYAR A. SALIHPLASTIC SURGERY RESIDENT

KURDISTAN – SLEMANI2014

Neurofibromatosis

Neurofibromatosis • Multiple NF• Café-au-lait spots• Other findings

Neurofibroma • Nerve sheath tumor

Definitions

• Autosomal dominant disorder1. NF-1 : chromosome 172. NF-2 : chromosome 22

Etiopathogenesis

• Caf’e-au-lait spots (≥6)1. >5 mm prepubertal2. >15 mm postpubertal

• Neurofibroma (≥2 any type or 1 PFN)

• Eyes: 1. Lisch nodules (≥2) - iris hamartomas 2. Optic glioma

• Freckling – Axilla or Inguinal area

• Bones: distinctive osseous lesions;1. Sphenoid wing dysplasia2. Long bone cortex thinning +/- pseudoarthrosis

• First degree relative: with NF-1 with above criteria

Diagnostic criteriaNF-1 (Two or more):

• Bilateral 8th CN mass

• A first-degree relative with NF-2 and either:1. Unilateral eighth nerve mass, or

2. Two or more of the following:• Neurofibroma• Meningioma• Glioma• Schwannoma• Juvenile posterior subcapsular lenticular opacity

NF-2

• Variation

• Age: 1. Begins in childhood, 2. Progress to adulthood.

• Sites1. Bones2. Spintal root3. Peripheral nerves4. Pheochromocytoma 10%5. Penile shaft (enlargement)6. Digits (enlargement)

• Plastic surgeon NF-1

Clinical features

Caf’e-au-lait spots

1. Hyperpigmented areas

2. Differentiated from congenital nevi (by Punch biopsy)

3. Birth- up to 1 yr

4. ↑ Number & size

5. 20-30 mm

NF-1

1. The clinical hallmark

2. Multiple cutaneous & subcutaneous nodular tumors.

Nodular tumor

• Before 5 yr

• 80%

Axillary freckling

• Slit-lamp exam

• Pigmented, dome-shaped nodules

• Onset by 10 yr

• All 20 yr

Lisch nodules

1. Optic glioma 15%

2. Brainstem glioma

3. Benign or malignant astrocytomas

4. Meningiomas

5. Medulloblastomas

6. Malignant schwannomas

Intracranial tumors

1. Sphenoid wing aplasia/dysplasia

• 5-7%

• Communication

• Proptosis

• Pulsatile exophthalmos

1. Macrocephaly

2. Scoliosis

3. Anterior tibial bowing

Skeletal abnormalities

a. Craniofacial

1. Sphenoid wing dysplasia

2. 1-10%

3. Unknown etiology

Neurofibroma

b. Plexiform

1. Eyes • Ptosis• Thickening• Visual obstruction• Glaucoma • Ectropion• Epiphora

2. Cheek• Grossly involved / Ptosis

3. Nose• Hypertrophy• Distortion of soft tissue &

cartilages

4. Teeth• Maxillary & mandibular

plane distortion

5. Speech problems• Mandibular division of

TGN

• Incidence: 13% in NF-1

• Origin: Neurosarcoma – Malignant Schwannomas

• Risk factors:1. NF-1 / 50%2. Only plexiform 3. Medium & large nerves

• Features: pain (most reliable indicator)

• Treatment: medical attention, biopsy, excision

• Prognosis: metastasis

Malignant degeneration

• Bleeding1. Packing

2. Returning in 48 hr

3. Monitoring

4. i.v. access

5. Hypotensive technique

• Recurrence 1. Decreased tensile strength

Treatment – Planning

A. Upper eyelid approach

1. Levator aponeurosis shortening

2. Temporal lobe repositioning

3. Sphenoid bone graft

4. Eyelid skin invagination

5. Orbital prosthesis

Cranio-orbital NFa. Skeletal reconstruction

B. Coronal approach

1. Forehead lift

2. Supraorbital bar repositioning

3. Dural separation

4. Ophthalmic nerve & vessels visualization

5. Middle cranial fossa-orbit separation with bone graft

1. Medial & lateral canthal management

2. Ptosis correction

b. Soft tissue reconstruction

Indications for treatment

1. Pain

2. Considerable enlargement

3. Mandible and maxilla deformity

Facial plexiform NF

Forehead

Forehead lift

1. Coronal approach

2. Hairline frontal approach

Facial plexiform NF

Cheek

1. Skeletal reconstruction• Performed first• Occlusal plane leveling• Osseous structure reduction• Orthognathic surgery

2. Soft tissue reconstruction:• Facelift: Permanent suture

anchoring to bony skeleton or• Tensor fascia lata sling• Direct full-thickness excision of

redundant tissue.

Facial plexiform NF

Nose & Lips

1. Skeletal reconstruction first

2. Soft tissue redundancy:• Direct excision (both

horizontal & vertical)

Facial plexiform NF

Thank you