Congenital Patterned Leukodermas & Skin Pigmentation

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Congenital patterned leukodermas are a group of disorders in which melanocytes in the skin, eyes or ears do not always reach the correct location during development in the womb. Disorders include:

• Waardenburg syndrome (types 1, 2 and 3)
• Apert syndrome
• Pfeiffer syndrome
• Jackson-Weiss syndrome
• Crouzon syndrome
• Hirschsprung syndrome (Waardenburg syndrome type 4)
• Piebaldism.

What do these diseases look like?

A feature which all of these disorders have in common is that they all have a complete or partial lack of pigmented cells in the skin or hair. This means that there is a lack of melanin in the skin which causes increased sensitivity to the sun. Sufferers of these diseases are therefore at a higher risk of developing skin cancer. Sufferers of Waardenburg syndromes and Hirschsprung syndrome can sometimes develop deafness.

Those with Waardenburg syndromes have unpigmented areas of skin. These patches vary in both size and number. Apert syndrome can cause light areas of pigmentation in many people with the disorder. Other features of this disorder include abnormalities in facial features. Light pigmented areas of skin can occur in people suffering from Pfeiffer syndrome. Even though there a lack of melanocytes, there is no pigmentation changes found in people with Jackson-Weiss or Crouzon syndromes. People affected by piebaldism can have a varying degree of lighter than normal pigmentation on the skin. This can range from some people having hardly any changes in pigmentation to others having almost a complete lack of any pigmentation in the skin or hair.

What is the cause of these diseases?

Congenital pattern leukodermas are caused by gene mutations. These mutations cause abnormalities that prevent pigmented cells from developing correctly. The mutations also mean that the pigmented cells don’t get to the places where they are meant to be, such as the skin, hair, eyes and ears.

Who can get these disorders?

These diseases are all congenital disorders which mean that they are present from birth. They affect both males and females equally, as well as affecting all races.

All of the congenital patterned leukodermas are rare. Hirschsprung syndrome is the most common of the disorders. The prevalence of Pfieffer syndrome, Jackson-Weiss syndrome and Piebaldism are unknown as they are the rarest of the diseases.

How are these disorders treated?

There is currently no effective treatment for disorders in which there is a lack of pigmented cells. It is possible to perform skin grafts onto areas of lighter pigmentation but this can leave scarring and can also be unsuccessful.

All sufferers of congenital pattern leukodermas should wear sunscreen and protective clothing to prevent damage caused by sun exposure.

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