Disorders

Epidermolytic Palmoplantar Keratoderma

Synonym(s): Localized Epidermolytic Hyperkeratosis, Vorner Disease

Gene	Locus	Protein
KRT9	17q21.2	Keratin, type I cytoskeletal 9

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark	• Sequence analysis of select exons
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.