Osteogenesis imperfecta

The skin is a large organ, which covers the entire body and acts as a protective barrier, as a communication system between the outside and inside of the body, and also contains the hair and sweat glands. The skin is rich in fibroblasts, cells that produce collagen. Because of this, the skin in OI may be thinner and more translucent, revealing the blood vessels through it. It may also be somewhat more fragile, making it more difficult for wounds to heal and favouring the appearance of abnormal scars. On the other hand, some affected people complain of excessive sweating.

The presence of skin bruising in OI is also a frequently reported symptom. An increased risk of bleeding in OI has been attributed to the presence of abnormal collagen that would hinder platelet function and increased capillary fragility. However, when coagulation and/or platelet function tests are performed in these patients, in most cases they show no alteration.  

Digestive issues, particularly constipation, tend to be more prevalent among individuals who rely on wheelchairs for mobility. From a nutritional perspective, challenges can arise during early childhood, potentially leading to underweight concerns. However, as individuals transition into adolescence and beyond, overweight issues become more common, particularly among those with sedentary lifestyles or low levels of physical activity.

Muscles may also be somewhat weaker in OI, leading to fatigue and the possibility of muscle injury.

Some people with OI have a characteristic high-pitched voice.