Biomaterial Database

Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. 2015

Sabine Duchatelet, and Alain Hovnanian

INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute for Genetic Diseases, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Paris, France.

Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report for the first time de novo dominant mutations in GJA1 encoding the ubiquitous Cx43 in patients with EKVP. These results expand the genetic heterogeneity of EKVP and the human disease phenotypes associated with GJA1 mutations. They disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome previously known to be caused by dominant GJA1 mutations.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005124	Eye Abnormalities	Congenital absence of or defects in structures of the eye; may also be hereditary.	Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D005260	Female		Females
D005532	Foot Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.	Congenital Foot Deformities,Congenital Foot Deformity,Deformities, Congenital Foot,Deformity, Congenital Foot,Foot Deformity, Congenital
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease
D013576	Syndactyly	A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.	Polysyndactyly,Syndactylia,Syndactylias,Syndactylies
D014071	Tooth Abnormalities	Congenital absence of or defects in structures of the teeth.	Odontome,Abnormalities, Teeth,Abnormalities, Tooth,Teeth Abnormalities,Abnormality, Teeth,Abnormality, Tooth,Odontomes,Teeth Abnormality,Tooth Abnormality
D056266	Erythrokeratodermia Variabilis	An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.	Erythrokeratodermia Figurata Variabilis,Greither Disease,Mendes De Costa Syndrome,Erythro et Keratodermia Variabilis,Erythrokeratodermia Figurata, Congenital Familial, in Plaques,Erythrokeratodermia Variabilis with Erythema Gyratum Repens,Erythrokeratodermia, Progressive Symmetric,Transgrediens et Progrediens Palmoplantar Keratoderma,Progressive Symmetric Erythrokeratodermia