infantile cortical hyperostosis :-Infants with tender swelling in the soft tissues and cortical thickenings in the skeleton.Self limited disease with unknown Etiology. it is a genetic mutatic disease present in infants.

1. INFANTILE CORTICAL
HYPEROSTOSIS
By
Dr. Rohit Kumar Singh
BDS, 2014 Batch
King George Medical University

2. CONTENT
 Overview
 Etiology
 Clinical Features
 Sign & Symptom
 Oral Manifestation
 Radiological features
 Histological features
 Treatment
 Bibliography

3. OVERVIEW
 First reported by Roske in 1930.
 Later Caffey and Silverman reviewed and
coined the term in 1945.
 Infants with tender swelling in the soft tissues
and cortical thickenings in the skeleton.
 Self limited disease with unknown Etiology.
 Characterized by triad of symptoms: bone
change, soft tissues swelling & irritability.
 Usually flat, central & tubular bone is
involved.

4. Fig- Normal Bone Anatomy
Fig- Caffey’s disease

5. ETIOLOGY
 I:3000 per infants in world
 Autosomal dominant disease
 No sex predilection
 Inflammatory process of unclear etiology.
 Early Stage: Inflammation of periosteum & adjacent soft
tissue
 Resolution stage: Periosteum remains thickened and
subperiosteal immature lamellar bone persist.
 Later Stage: Hyperplasia of lamellar cortical bone
 Genetically transmitted with unknown etiology

6. COL1A1 gene mutation
Replace arginine with cysteine at
protein position 836 (R836C)
Production of type 1 collagen fibrils
(various shape and size)
GENETIC CHANGES

7.  how these changes leads to the Caffey’s disease is
obscure.
 In some cases Caffey’s patient show incomplete
penetrance.
 Infectious agent with a long latency period (arterial
defect + allergic reaction)
Fig- Nucleotide representation of Caffey’s disease

8. Figure
shows:-

12. CLINICAL FEATURES
 Affects both the sex equally.
 Primary manifestation include symptoms such as
a) Irritability
b) Swelling of soft tissue
c) Cortical thickening of bone
d) Fever may also be present in some cases

13. On the basis of onset and presentation it has two forms:
FAMILIAL FORM
At an avg. Age 6 to 8
week
May present at birth
More common
Lower extremities are
involved
Tibia is usually
involved
SPORADIC FORM
At an avg. Age 9 to 11
week
Not present at birth
Less common
Upper extremities are
involved
Mandible is usually
involved

14. Swelling appears suddenly, which is deep, firm and tender.
Babies may resist to eat due to mandibular Involvement.
The mandible and clavicle bones are more commonly involve
Mainly Central, flat and tubular bones involved.
Fig- Swelling in forearm

17. SIGN AND SYMPTOMS
 Fever
 Irritability
 Deep, tender swelling
 Pseudo-paralysis
 Dysphagia
 Pleural effusion
 Anemia

20. Oral manifestation
 Asymmetrical deformity of mandible (Angle & ramus)
 Malocclusion present
 Unilateral swelling that may be confusion with cherubim
(bilateral swelling)
Fig- Pt. showing facial asymmetry

21. RADIOLOGICAL FEATURES
 Multifocal periosteal new bone formation
 Bone is florid and compact
 Cortical thickening at diaphysis of long bone
 Bone and soft tissue swelling

23. Fig- X-Ray image showing mandibular thickening

24. HISTOLOGICAL FINDINGS
 Early stage - inflammation of periosteum and adjacent
periosteal immature lamellar bone
 Bone marrow space replaced by vascular fibrous tissue
 Late stage - presence of laminar cortical bone hyperplasia or
sub-periosteal changes absent
Fig- bone histo slide shows Caffey's disease

25. Fig- histo slide of radius and ulna shows
Caffey's disease

27. LAB FINDINGS
 ESR↑
 Serum Alkaline phosphatase↑
 Leukocytosis & monocytosis
 Thrombocytosis
 Anemia
 Immunoglobin level↑
 GTR shows presence of defining COL1A1pathogenic
variant C.3040>T

28. DIFFERENTIAL DIAGNOSIS

29. TREATMENT
 No specific treatment
 Corticosteroid for inflammation
 NSAIDS to relieve pain

30. BIBLIOGRAPHY
 Shafer’s textbook of oral pathology
 Essentials of oral pathology _ purkait
 jurnal of clinical investigation dated may 2005 , A novel
COL1A1 mutation in infantile cortical hyperostosis (Caffey's
disease) expands the spectrum of collagen-related disorders
 http://dm5migu4zj3pb.cloudfront.net/manuscripts/22000/22760
/medium/JCI0522760.f3.jpg
 http://1.bp.blogspot.com