PENS syndrome
Findings
No curated finding names PENS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017785), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: PENS syndrome
- Also called
- papular epidermal nevi with skyline basal cell layers syndrome