Erythrokeratodermia-cardiomyopathy syndrome

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Erythrokeratodermia-cardiomyopathy syndrome

Synonyms: EKC syndrome

Erythrokeratodermia-cardiomyopathy syndrome is a rare genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment progressive dilated cardiomyopathy palmoplantar keratoderma sparse or absent eyebrows and eyelashes sparse scalp hair nail dystrophy and dental enamel anomalies. Variable features include failure to thrive developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis hypogranulosis and compact orthohyperkeratosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

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