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Osteogenesis imperfecta - Skin
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Osteogenesis imperfecta - Skin

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Osteogenesis imperfecta refers to a heterogeneous group of inherited qualitative or quantitative defects in collagen type I synthesis, resulting in osteoporosis and frequent fractures. Representing a range of severity, 4 types are recognized:
  • Type I – 1:30 000 live births, infancy
  • Type II – 1:60 000 live births, in utero
  • Type III – 1:70 000 live births, half in utero, half neonatal period
  • Type IV – rare, infancy
No sex difference; the disorder occurs worldwide but has been reported to have a higher incidence in 2 tribes in Zimbabwe. Most cases are inherited in an autosomal dominant pattern, although spontaneous mutations occur. Depending upon the type, patients present with fractures in utero or childhood, easy bruising, joint laxity, early onset of deafness, blue sclera, brittle teeth, scoliosis, long limb deformity, and short stature. Depending on the type, other findings include hernia, mitral valve prolapse, arterial fragility, pulmonary hypertension, and fragile skin. Complications include orthopedic problems, cerebral hemorrhage due to birth trauma and basilar or cord compression. Many may die of respiratory infections. Life expectancy depends upon type. Types I and IV have a slight decrease, while most patients with Type II die in the first year. Type III patients have a reduced life expectancy due to skull fractures and respiratory infection but have a reasonable prognosis if surviving beyond age 10.

For more information, see OMIM.

Codes

ICD10CM:
Q78.0 – Osteogenesis imperfecta

SNOMEDCT:
78314001 – Osteogenesis imperfecta

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Child abuse – Type IV is most likely to be confused with child abuse. Differentiating signs include types of fractures, serial X-rays to show healing, associated nonskeletal abnormalities such as retinal hemorrhage, signs of intracranial bleeding, splenic trauma, and visceral intramural hematomas. Note: OI and child abuse may coexist.
  • Camptomelic dysplasia (a congenital short-limb skeletal dysplasia characterized by prenatal bowing of the lower limbs)
  • Achondrogenesis type I (extremely short limbs, craniofacial abnormalities)
  • Congenital hypophosphatasia (due to absence of alkaline phosphatase in the serum resulting in a diffuse lack of calcium deposition in the bones. Vomiting, failure to gain weight, and enlargement of the epiphyses like that seen in rickets usually occur. Bony deformities and dwarfism are present.)
  • Steroid-induced osteoporosis
  • Copper deficiency (Menkes syndrome – Kinky hair with pili torti and X-ray changes in long bones)

Best Tests

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Therapy

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References

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Last Updated: 03/29/2017
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Osteogenesis imperfecta - Skin
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Osteogenesis imperfecta : Easy bruising, Joint hypermobility, Kyphoscoliosis, Pathologic fracture, Arthralgia, Blue sclera
Clinical image of Osteogenesis imperfecta
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