Etiology:

Generalized symmetrical increase in bone density

Classification:

Infantile:

• AR
• Bone pain
• Normocytic anemia + hepatosplenomehaly
  • Due to compensatory extramedullary hematopoiesis
• Delayed tooth eruption
• Facial deformity
• Optic nerve atrophy, blindness
• Deafness
• Facial paralysis
• Pathological fractures
• Osteomyelitis
• Pancytopenia and all its symptoms

Adult:

• AD
• Mild, not fatal
• Bone pain

Diagnosis:

X-ray:

• Cotton wool appearance – bone within bone

Histology:

• Cancellous bone replaced by tortuous lamellar bone
• Amorphous bone deposits in marrow (no medullary space)
• Osteophytic bone transformation

Management:

• Frequent prophylaxis
• Home care
• Topical fluorides
• Bone marrow transplants + high dose calcitriol
• Symptomatic management for teeth

Complication:

• Osteomyelitis

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