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Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder.
PSEK is related and can be very similar in appearance to another rare form of ichthyosis called erythrokeratodermia variabilis (EKV).
Many researchers active in the study of the family of diseases known as the ichthyoses consider EKDA to be a variant of an ichthyotic disorder, erythrokeratodermia variabilis (EKDV).
EKV Keratosis Rubra Figurata Mendes Da Costa Syndrome None Erythrokeratodermia variabilis is an inherited skin disorder characterized by two features: short-lasting red patches in various sizes and shapes that may involve any part of the body; and thickening of the skin (hyperkeratosis).