Piebaldism

When piebaldism, which is also known as albinism partialis ( partial albinism ), is a very rare autosomal dominant syndrome, which is the formation of a white forelock ( Poliosis, in 90 % of cases), as well as a circumscribed hypopigmentation the skin ( Leukodermie ), ie white spots ( macules ) especially on the face, neck, torso front and flanks comes. Within the depigmentation are often patchy hyperpigmentation to find.

The white forelock has a characteristic appearance. There is a hair heterochromia. It grows in the forehead area and its apex is directed downward.

A causal therapy of piebaldism is not possible.

Cause

The cause of the piebaldism is a genetic mutation in the KIT gene, which is located on the long arm of chromosome 4 and encodes the KIT receptor. The KIT receptor plays a role in the migration of melanocytes in the development of the embryo ( embryogenesis ). This results in certain areas to a lack or to an incorrect distribution of melanocytes, so it is, despite the misleading name, not albinism but leucism.

Variants

Variants of piebaldism are of - Waardenburg syndrome (associated with a hearing impairment ) and the Wolf syndrome.

Swell

• Bernard A. Cohen, Pediatric Dermatology. Urban & Fischer Verlag, 2nd edition 2007, p 168 ISBN 978-3-437-24250-2
• H. guy. et al: Histopathology of the skin. Springer -Verlag 2003, p 536 ISBN 3-540-41901-2
• Alexander Meves: Intensive dermatology. Urban & Fischer Verlag 2006, p 370 ISBN 3-437-41162-4

• Skin disease
• Hereditary disease