David Sutton Radiology Textbook Reading, Radiology Resident of Gajah Mada University

1. TEXTBOOK READING OF SUTTON
FIBROGENESIS IMPERFECTA OSSIUM
Textbook of Radiology and Imaging
7th Edition, Volume 2, page 1126
CHAPTER 35:
Congenital Skeletal Anomalies:
Skeletal Dysplasias, Chromosomal Disorders
Presented by: Yessi Oktiari
Consultant: dr. Yana Supriatna, Ph.D, Sp.Rad(K)RI

2. Chapter 35:
Congenital Skeletal Anomalies: Skeletal Dysplasias,
Chromosomal Disorders
• Congenital Skeletal Anomalies
• Dysplasias of Bone
– Cleidocranial dysplasia (CCD)
– Pyknodyostosis
– Acro-osteolysis
– Osteogenesis imperfecta
– Fibrogenesis Imperfecta Ossium (FIO)
– Osteopetrosis

3. Bone Histology
Components of bone
1. Cells
– Bone forming cells (osteoblast and
osteocyst)
– Bone resorbsing cell (osteoclast)
2. Matrix
– Nonmineral matrix of collagen and
noncollagenous proteins (osteoid)
– Inorganic mineral salts deposited
within the matrix

4. Bone Histology
Calcified bone contains
• 25% organic matrix
(2-5% of which are cells)
• 5% water
• 70% inorganic mineral
(hydroxyapatite)
Hardness and rigidity of bone
Presence of mineral salt in the
osteoid matrix: crystalline complex
of calcium and phosphate
(hydroxyapatite)

5. Definition
A generalized disease of bone
characterized by defective formation
of the collagen fibres of the bone matrix
• First described by Baker and Turnbull in 1950
• Rare condition: 24 cases have been described in the literature to date (2007)
• The disease is not congenital, apparently acquired during middle age (median age of 56 years)
• There was no family history of bone disease (1950)
• Two patients, a 12-year-old girl and her father, both with FIO, have raised the question of genetic
predisposition to the disorder (2007)

6. Pathophysiology
• Defect is confined to the
bone matrix,
• No defect in the soft tissue
collagen
• Periosteum shows normal
fibre structure
Osteoblasts major product :
type 1 collagen
forms the organic osteoid matrix
mineralized to hydroxyapatite
Defective bone matrix
Immature, impaired movement
Other factors like changes in
plasma proteins play an etiologic
role in FIO

7. Fibrogenesis Imperfecta Ossium (FIO)
Signs and Symptoms
• Vague illness
• Progressive pains in the limb and trunk
• Recurrent fractures
• And then weakness, muscle atrophy and contractures
Diagnosis
• Often difficult to diagnose and is not associated with disturbances in calcium,
phosphorus or calciotropic hormones
• Bone biopsy including a polarized microscopic evaluation
• Histopathological studies
The birefringent pattern normaly formed by collagen fibrils is absent

8. Bone Scan
Radiographic abnormality:
• Occur throughout the skeleton except
the skull

9. Knee Plain X-Ray
Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic
appearance, Course et al., 2007
• Trabeculae appear coarse and irregular (abnormal matrix
replacing trabeculae and bone marrow)
• Deformity secondary to fracture may be present but bony
contours are usually normal

10. MRI of The Right Knee
Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic
appearance, Course et al., 2007

11. Ankle Plain X-Ray

12. MRI of The Right Ankle

13. Differential Diagnosis
• Radiographic DD: Paget’s disease, osteopoikilosis, osteomalacia
Similarity Difference
Trabecular pattern Paget’s disease:
• Asymetrical pattern
• Changes in shape and size of the bones
involved
Similarity Difference
Symmetrical, metaphyseal,
and epiphyseal radiodense well-defined
nodules
Osteopoikilosis: asymptomatic
FOI vs Osteopoikilosis
FOI vs Paget’s Disease
Similarity Difference
Wide osteoid borders Osteomalacia: the fibre structure of the osteoid
tissue is normal
FOI vs Osteomalacia

14. Resume
1. Bone histology
2. Definition
3. Pathophysiology
4. Sign and symptom
5. Diagnosis
6. Radiologic features
7. Differential diagnosis

15. Quiz
What is the radiologic features of fibrogenesis imperfecta?
a. Coarse and irregular trabecular
b. Asymetric pattern
c. Changes in bone shape
d. Diaphyseal radiodense well-defined nodules
e. Hair on end appereance

16. TERIMA KASIH DAN
MOHON ASUPAN