Bone Abstracts

Background: Epidermolysis bullosa (EB) is a rare, genetic skin disorder characterized by increased skin fragility after relatively minor trauma. It varies in severity even within the same subtype, ranging from a minor inconvenience to a severely disabling or life threatening disorder. In generalized forms, EB is a systemic disorder in which osteoporosis is a frequent manifestation.

Presenting problem: While the mutations that cause EB do not have a direct effect on the bone, various risk factors contribute to low bone mass in children with generalized EB. These include i) reduced mobility mainly due to wound pain and contractures, ii) malnutrition caused by eating problems on the one hand, and elevated needs of calories, minerals and proteins on the other hand, iii) chronic inflammation due to persisting wounds leading to the production of cytokines which influence bone health, iv) delayed puberty and growth, and v) insufficient sun exposure due to bandages and wound dressings and because of the delicate nature of the skin.

Clinical management: Diagnosis of osteoporotic fractures tends to be late, as patients with generalized types of EB frequently suffer from chronic pain. DXA scans seem to be useful only when symptoms exist. X-ray images and laboratory values are also important for diagnosis.

Multifactorial prevention is essential to at least reduce bone involvement. Weight bearing activities, adequate nutrition, treatment of inflammation, and vitamin D supplementation are major aims in prevention.

Therapy of fractures is multidisciplinary as well, consisting mainly of the improvement of the management of risk factors and administration of bisphosphonates.

Discussion: Low bone mass in generalized forms of EB is frequent. Reduced mobility seems to be the main risk factor. In addition to promoting weight-bearing activities and adequate nutrition, prevention strategies such as hormone therapy to promote growth and puberty are discussed.

Disclosure: The authors declared no competing interests.