Ledderhose Syndrome

What is Lederhosen syndrome?

Lederhae syndrome is a rare and best-studied hereditary metabolic disease manifested by albinism and progressive heterochromic retinopathy with typical vascular changes, caused by a mutation in the ATP7A (transmembrane antiporter protein) gene located on 9q34.2-3. Most often, the defective gene occurs in the form of various microdeletion variants.

The first description of such changes in the foot, reminiscent of bone plates with signs of soft tissue atrophy, was made in 1956 by G. Lederhe in