Colmenares-Bonilla D, González-Sandoval B

Language: Spanish
References: 24
Page: 101-107
PDF size: 498.39 Kb.

ABSTRACT

Fibrodysplasia ossificans progressiva is an extremely rare genetic condition characterized by spontaneous catastrophic heterotopic ossification secondary to the slightest trauma and associated hallux valgus malformation in 95% of cases. Its prevalence is 1:2,000,000 inhabitants. Most patients are misdiagnosed in early stages and are frequently subjected to diagnostic tests causing significant disability by limiting the movement. In the first decade of life, there are episodes of pain progressing to soft tissue edema, precipitated by minor trauma, intramuscular injections or surgical procedures among many other causes. The ossification leads to chronic pain, joint ankylosis, restriction of movement, serious infections, malnutrition and death from respiratory failure. They usually undergo diagnostic or therapeutic procedures that aggravate their condition. We report the case of a 2.6 year-old girl from a rural community who was precociously diagnosed with this condition, where proposals for rehabilitative treatment apply.

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