Osteopetrosis/ Albers Schönberg disease

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
Classification of osteopetrosis

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:

Picture

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