Last Updated: 2022-03-25
- Absence of melanocytes in lesional skin in well-defined localisation.
- Classically only the skin is affected.
- Born (forelock already objectifiable at birth, other areas also manifest later).
- Associated with Klein-Waardenburg syndrome, ADFN syndrome, Tietz syndrome, Chediak-Higashi syndrome, Stargardt syndrome (irregular)
Genetic disease, autosomal dominant, mutation in KIT, SLUG genes.
Amelanotic macules, these are milky-white and irregularly bordered, sometimes also café-au-lait spots (with spherical melanomas).
Poliosis circumscripta (forelock, also eyebrows partially affected).
Hypomelanoe on the chin, dorsal neck, middle of the trunk, extremities (knees!).
- Based on the typical clinic
- Family history
Frontal (curl) as the most important symptom of the disease, trunk ventral may also be affected.
No melanin, no melanocytes in the lesions.
No healing to be expected.