Living with PENS syndrome
A very rare skin condition with small rough spots present from birth, which can come with nervous system problems.
Understanding PENS syndrome
The skin spots are small, slightly scaly bumps with a rough, flat surface, in colors from white to brown. They may be visible at birth or soon after. About half of people have neurological symptoms, such as mild intellectual disability, seizures, or delayed development. Hearing loss, unusual facial features, and genital differences have been described in a few cases.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes:
- Small, rough, scaly skin bumps
- Mild intellectual disability (about half of cases)
- Seizures
- Delayed development or clumsiness
- Hearing loss (in a few cases)
- Genital differences (in a few cases)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Nevus Outreach, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the cause is not known. Several families have more than one affected member.
Also known as: papular epidermal nevi with skyline basal cell layers syndrome; pens (papular epidermal nevi with skyline basal cell layers) syndrome
Patient organizations
- Nevus Outreach, Inc.PENS syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with PENS syndrome.
Explore research for PENS syndrome
Explore actively recruiting PENS syndrome studies with HealthSpark.
Find actively recruiting studies for PENS syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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