Biomaterial Database

Case of epidermolytic palmoplantar keratoderma with knuckle pads. 2012

Masahiro Hayashi, and Hajime Nakano, and Daisuke Sawamura, and Tamio Suzuki

UI	MeSH Term	Description	Entries
D007564	Japan	A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo.	Bonin Islands
D008297	Male		Males
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D050823	Hand Joints	The articulations extending from the WRIST distally to the FINGERS. These include the WRIST JOINT; CARPAL JOINTS; METACARPOPHALANGEAL JOINT; and FINGER JOINT.	Intermetacarpal Joints,Intermetacarpal Joint,Joint, Intermetacarpal,Joints, Hand,Joints, Intermetacarpal
D053534	Keratin-9	A type II keratin found predominantly expressed in the terminally differentiated EPIDERMIS of palms and soles. Mutations in the gene for keratin 9 are associated with KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC.	Cytokeratin 9,Cytokeratin-9,Keratin 9
D053546	Keratoderma, Palmoplantar, Epidermolytic	An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.	EPPK (Epidermolytic Palmoplantar Keratoderma),Epidermolytic Palmoplantar Keratoderma Vorner Type,Hyperkeratosis, Localized Epidermolytic,Keratoderma, Epidermolytic Palmoplantar,Keratosis of Greither,Palmoplantar Keratoderma, Epidermolytic,Thost-Unna Disease, Epidermolytic,Unna-Thost Disease, Epidermolytic,EPPKs (Epidermolytic Palmoplantar Keratoderma),Epidermolytic Hyperkeratoses, Localized,Epidermolytic Hyperkeratosis, Localized,Epidermolytic Palmoplantar Keratoderma,Epidermolytic Palmoplantar Keratodermas,Epidermolytic Thost-Unna Disease,Epidermolytic Unna-Thost Disease,Greither Keratosis,Hyperkeratoses, Localized Epidermolytic,Keratodermas, Epidermolytic Palmoplantar,Localized Epidermolytic Hyperkeratoses,Localized Epidermolytic Hyperkeratosis,Palmoplantar Keratodermas, Epidermolytic,Thost Unna Disease, Epidermolytic,Unna Thost Disease, Epidermolytic
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense