Erythrokeratodermia Variabilis et Progressiva Allelic to Oculo-Dento-Digital Dysplasia

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By using exome sequencing, we ...

Erythrokeratodermia variabilis: successful palliative treatment with acitretin.

Sir, Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis which is characterized by the coexistence of hyperkeratotic plaques and transient erythematous patches. Irregular, variably shaped erythematous macular patches may enlarge or regress over time. Concurrently, there are persistent, well-demarcated, geographic, hyperkeratotic plaques which are distributed on the ...

Oculo-auricular cranial dysplasia.

GOLDENHAR (1952) reviewed the literature relating to a syndrome consisting of epibulbar dermoids or lipodermoids, auricular appendices, and certain skeletal anomalies. Forty such cases or variants thereof have so far been recorded and Sugar (1966) added three more. We have recently seen an infant with ocular epibulbar dermoids, auricular appendices, congenital hydrocephalus, meningo-encephaloce...

Clinical aspects of oculo-auriculo-vertebral dysplasia.

Acquired corneal dystrophy; dysgenesis of the anterior segment of the eye, blue scleral band, oligodontia, and metacarpal dysplasia (dysplasia oculo-dento-digitalis?).

RIEGER'S dysgenesis mesodermalis iridis et corneae, caused by a faulty differentiation in the anterior segment, is not limited to the mesodermal structures of the eye, but demonstrates a range of ectodermal anomalies as well. This is why Hagedoorn (1937) suggested the term "dysgenesis mesostromalis", stressing the frequent occurrence of ectodermal developmental anomalies of the iris and lens, c...