PENS syndrome

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PENS syndrome

Synonyms: Papular epidermal nevi with skyline basal cell layers syndrome

PENS syndrome is a rare genetic neurocutaneous syndrome characterized by the presence of randomly distributed small white to yellowish multiple rounded or irregular polycyclically-shaped epidermal keratotic papules and plaques of ”gem-like” appearance with a rough surface typically located on the trunk and proximal limbs associated with variable neurological abnormalities including psychomotor delay epilepsy speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness dyslexia and oftalmological abnormalities have also been reported.

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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PENS 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.


Educate and provide resources to POC with Rare Cancers

Clinical Trials

For a list of clinical trials in this disease area, please click here.