Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype.

Inclusion Criteria:

1. cystinosis
2. known CTNS mutation

Exclusion Criteria:

1. patient with corticotherapy treatment
2. patient with immunosuppressant treatment