Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). This disease is also referred to as Camurati-Engelmann disease, osteoathia hyperostotica scleroticans multiplex infantalis, progressive diaphyseal dysplasia, or ribbing disease.
This is a rare, hereditary condition characterized by progressive bone dysplasia, which refers to an abnormality in bone growth. People affected by this condition experience an unusual lengthening and thickening of their bones, leading to abnormal stature and, in some cases, delayed walking. Additionally, individuals with this condition may also experience muscle wasting, pain, or weakness in the affected limbs, delayed onset of puberty, and hypogonadism, which is the underactivity of the testes or ovaries.
This condition is inherited in an autosomal dominant pattern, and it tends to affect more males than females. Typically, it is diagnosed during the first few years of life. Unfortunately, there is no specific treatment currently available for this disease; however, nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to help alleviate the associated pain.