PENS syndrome

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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://www.orphadata.org. Data version April 2026

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Clinical Trials

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