Multiple Neurofibromatosis Or The Elelphant Man
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MULTIPLE NEUROFIBROMATOSIS
Von Recklinghausen's disease •
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 Diagnosis Two of the following seven are necessary: Diagnostic criteria
Requirements
At least 6 cafeaulait spots
>5mm (prepubital), >15mm (mature)
Neurofibromas
2 or more (or 1 plexiform type)
Axillary/inguinal freckles
Multiple
Osseous lesion
Sphenoid dysplasia
cortical thinning
cortical thinning
Optic glioma
Presence
Lish nodules
2 or more iris lesions by slit lamp exam
Family history
Cutaneous Two forms: i) peripheral = cafeaulait 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
Firstdegree relative with neurofibromatosis
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
Two recognised patterns: i) short segment, dysplastic, sharply angulated curve ii) resembling idiopathic scoliosis Cause unknown theories: (no consenus) (a) secondary to osteomalacia (b) localised neurofibromatosis tumour eroding and infiltrating bone (c) endocrine disturbance (d) mesodermal dysplasia Dysplasia causes: •
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
Kyphoscoliosis: •
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)
Disorders of bone growth: •
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
Congenital pseudoarthrosis: •
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
Erosive bone defects: •
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
Subperiosteal bone proliferation: •
rare
•
initiated by minor fractures with subperiosteal bleeding
•
osseous dysplasia of heamatoma
Cervial spine disorders: •
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: 7288. 1986 3. Spinal Cord Compression by Displaced Ribs in Neurofibromatosis Major M.R. et al. J.B.J.S. Vol 70A, No. 7: 11001102. 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: 14191421. 1989.
Von Recklinghausen's disease •
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 Diagnosis Two of the following seven are necessary: Diagnostic criteria
Requirements
At least 6 cafeaulait spots
>5mm (prepubital), >15mm (mature)
Neurofibromas
2 or more (or 1 plexiform type)
Axillary/inguinal freckles
Multiple
Osseous lesion
Sphenoid dysplasia
cortical thinning
cortical thinning
Optic glioma
Presence
Lish nodules
2 or more iris lesions by slit lamp exam
Family history
Cutaneous Two forms: i) peripheral = cafeaulait 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
Firstdegree relative with neurofibromatosis
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
Two recognised patterns: i) short segment, dysplastic, sharply angulated curve ii) resembling idiopathic scoliosis Cause unknown theories: (no consenus) (a) secondary to osteomalacia (b) localised neurofibromatosis tumour eroding and infiltrating bone (c) endocrine disturbance (d) mesodermal dysplasia Dysplasia causes: •
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
Kyphoscoliosis: •
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)
Disorders of bone growth: •
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
Congenital pseudoarthrosis: •
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
Erosive bone defects: •
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
Subperiosteal bone proliferation: •
rare
•
initiated by minor fractures with subperiosteal bleeding
•
osseous dysplasia of heamatoma
Cervial spine disorders: •
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: 7288. 1986 3. Spinal Cord Compression by Displaced Ribs in Neurofibromatosis Major M.R. et al. J.B.J.S. Vol 70A, No. 7: 11001102. 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: 14191421. 1989.
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