Dr. John Rooney

CONTENTS

• diagnosis

• cutaneous

• Skeletal manifestations

• Disorders of bone growth

• Congenital bowing and pseudoarthrosis

• Erosive bone defects

• Subperiosteal bone proliferation

• Cervial spine disorders

• Hereditary disease with varied manifestations
• Autosomal dominant
• Multiple forms of the disease - genetic heterogeneity
• Dyshistiogenesis involving skin, CNS, skeleton, soft tissue
• The skeletal system being the most involved of mesodermal tissue

Requirements

Cutaneous

Two forms:

i) peripheral = cafe-au-lait spots and neurofibroma

ii) central = multiple CNS tumours

For 25% of those affected, lesions are the only manifestation

Increase in size and number with age

Skeletal manifestations

Scoliosis 64% - bone growth disorder 16% - pseudoarthrosis 13% (Crawford)

Scoliosis 10% in all patients with the disease (Curtis)

Scoliosis:

• short, sharp angulated curve at apex
• progressive
• commonly thoracic

• severe wedging, strong rotation and scalloping of vertebral bodies
• spindling of transverse process
• foraminal enlargement
• penciling of vertebral margins and apical ribs
• This may be due to dumbell tumours/intraspinal neurofibromas or dura ectasia/saccular dilatations

• Kyphosis predominates over scoliosis
• hence may contribute to paraplegia more than scoliosis
• where dysplastic scoliosis with kyphosis >50 degrees, the incidence of psuedoarthrosis up to 64% (Winter)

• diffuse hypertrophy of bone and soft tissue
• associated with overlying soft tissue changes, eg, haemangioma, lymphangioma, beaded plexiform neuromas
• unilateral affecting extremity, head, neck
• bone is elongated, cortex waxy irregular pattern and thickened

Congenital bowing and pseudoarthrosis:

• first described by Ducroquet, 1937
• presents by age 1
• Tibia most commonly affected, anterolaterally bowed
• may develop spontaneously after fracture or osteotomy
• Green and Rudo 1943 - tumour growing within cortex
• Aegeter 1950 - tumour in surrounding soft tissue with secondary bony involvement

• bilateral with posterior medial bowing
• before 2 years of age but no evidence of disease
• equal sex distribution
• 40% with disease and pseudoarthosis of the tibia have relatives with the disease
• Crawford classification of four different types

• Cysts or caves in bone
• unknown cause, likely mechanical erosions of directly contiguous tumour
• others propose:

(a) pressure erosion from peripheral nerve

(b) secondary overgrowth of periosteum

(c) cyst formation due to neurofibromas

(d) cyst due to direct invasion plexiform neuroma

• rare
• initiated by minor fractures with subperiosteal bleeding
• osseous dysplasia of heamatoma

• present with lump in neck

Bibliography

1. Review of Orthopedics Mark M. Miller 1992. W.B. Sanders

2. Osseous Manifestation of Neurofibromatosis in Childhood Crawford A.H. et al. J. Pediat. Orthop, 6: 72-88. 1986

3. Spinal Cord Compression by Displaced Ribs in Neurofibromatosis Major M.R. et al. J.B.J.S. Vol 70A, No. 7: 1100-1102. 1988.

4. Pseudoarthrosis of the radius after fracture through normal bone in a child who had Neurofibromatosis

Kaempffe F.A. et al. J.B.J.S. Vol 71A. No. 9: 1419-1421. 1989.