Genodermatoses: Congenital skin disorders

Managing rare skin diseases is important, not just to reduce the symptoms of the skin problem but also to regain the self confidence that comes with understanding the skin problem and how it affects you. In Australia, specialist dermatologists provide specialised care for patients with genodermatoses and can help guide their care.

What is it?

Rare diseases can occur just in the skin, or the skin can be affected as part of a syndrome that affects other body organs as well. These are inherited conditions that may be seen at birth or become noticeable over time.

What causes it?

Genetic changes in genes that make the proteins and structures in the skin can cause a variety of rare diseases. These diseases include fragile skin disorders (epidermolysis bullosa), dry and flaky skin (the ichthyoses) and inflammatory skin disorders (e.g., Hailey-Hailey or Darier disease). Many of the gene changes are now being discovered and can guide information about what to expect through life and potential treatment choices.

What are the treatment options?

Depending on the condition, creams or specific medications may be useful.

What to expect at your appointment

You will be asked questions about your child’s skin condition, any creams you are using now and previous treatments you have tried. You will also be asked questions about their past and current health, as well as your family history. Your child’s skin will be examined carefully. Specific tests, such as a blood test, may be recommended.