The presence of two compound heterozygous mutations in this gene in our patient with a phenotype highly suggestive of HJMD and the absence of additional systemic anomalies led us to the diagnosis of the first Spanish case, and one of the very few Caucasian cases, of HJMD and to describe a new mutation in the CDH3 gene. The gene discussed is CDH3; the disease is Hypotrichosis with juvenile macular degeneration.