Nevus comedonicus syndrome

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Nevus comedonicus syndrome

A rare syndromic nevus characterized by the association of typically unilateral closely arranged linear slightly elevated multiple nevus comedonicus lesions located usually on the face neck trunk or limbs (with or without a central dark firm hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular skeletal and/or central nervous system abnormalities such as ipsilateral cataract corneal erosion poly-/syndactyly absent fifth finger scoliosis vertebral defects corpus callosum agenesis seizures interhemispheric cyst intellectual deficiency and/or developmental delay.

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: // Data version September 2023.

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Nevus comedonicus syndrome?

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Advocacy Organizations

My Faulty Gene

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.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


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Clinical Trials

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