# Síndrome PENS

> Página oficial: https://raras.org/doenca/sindrome-pens
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 313936 — https://www.orpha.net/en/disease/detail/313936
- **CID-10**: Q82.5

## Descrição clínica

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.

## Epidemiologia e herança

- **Prevalência**: <1 / 1 000 000
- **Casos conhecidos**: 13
- **Padrão de herança**: Not applicable

## Ensaios clínicos ativos (2)

- **NCT07144631** [RECRUITING]: Peroneal Electrical Nerve Stimulation in Pregnancy for Restless Legs Syndrome — https://clinicaltrials.gov/study/NCT07144631
- **NCT07063641** [NOT_YET_RECRUITING]: Predictive Model for PENS Response in Subacromial Pain Syndrome — https://clinicaltrials.gov/study/NCT07063641

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Síndrome PENS. Disponível em: https://raras.org/doenca/sindrome-pens
**Formato HTML**: https://raras.org/doenca/sindrome-pens
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=313936