This website provides information on patients with mutations in the PERP gene, including clinical data, molecular data, management, and research options.
Homozygous mutations in the PERP gene cause Erythrokeratodermia variabilis et progressiva 7 (EKVP7; MiM#619209), an autosomal recessive disorder characterized mainly by palmoplantar keratoderma and erythematous annular skin lesions.
This website was created to identify additional patients with homozygous (or compound heterozygous) mutations in PERP to increase knowledge on the consequences of PERP mutations.
Clinicians who identify a patient with a mutation in PERP are invited to submit this information to the database.
Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG, Department of Genetics, King Faisal Specialist Hospital and Research Center / College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com
Fadie D. Altuame, MBBS Intern, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org