Elastosis perforans serpiginosa

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ORPHA:79148OMIM:130100L87.2
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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Elastosis perforans serpiginosa (EPS) is a rare skin condition where abnormal elastic fibers — the stretchy proteins that help skin bounce back — are pushed out through the outer layer of the skin. The body tries to get rid of these unusual fibers, and this process creates small, firm bumps that often form curved or snake-like patterns on the skin. The name 'serpiginosa' actually comes from the Latin word for 'creeping,' which describes how the rash tends to spread in a winding shape. EPS most often appears on the neck, but it can also show up on the face, arms, and trunk. The main symptoms are clusters of small, reddish or skin-colored bumps that may itch or feel rough. Over time, the bumps can leave behind scars or darkened patches of skin. EPS can occur on its own, but it is also linked to certain connective tissue disorders — conditions that affect the body's structural proteins — such as Marfan syndrome, Down syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. In some cases, it can be triggered by a medication called penicillamine, which is used to treat conditions like Wilson's disease and rheumatoid arthritis. Treatment for EPS focuses on managing symptoms and improving the appearance of the skin. There is no single cure, but options include topical creams, laser therapy, and other skin-directed treatments. The condition is not life-threatening on its own, but it can cause significant emotional distress due to its visible nature. Working with a dermatologist is the most important step after diagnosis.

Key symptoms:

Small, firm, raised bumps on the skinBumps arranged in curved, ring-shaped, or snake-like patternsRedness or discoloration around the bumpsItching or mild discomfort at the affected areaRough or scaly texture on the skin surfaceScarring or darkened skin after bumps healMost commonly appears on the neck, face, or upper armsSlow spreading of the rash over months to yearsSkin changes that may worsen with certain medications

Clinical phenotype terms (11)— hover any for plain English
Hyperkeratotic papuleHP:0045059Skin-colored papuleHP:0025512Serpiginous cutaneous lesionHP:0025527Annular cutaneous lesionHP:0025528Crusting erythematous dermatitisHP:0007473
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Juvenile

Begins in the teen years

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Elastosis perforans serpiginosa.

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No actively recruiting trials found for Elastosis perforans serpiginosa at this time.

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No specialists are currently listed for Elastosis perforans serpiginosa.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Elastosis perforans serpiginosa.

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Community

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Is my EPS linked to an underlying connective tissue disorder, and should I be tested for one?,Could any of my current medications be causing or worsening my EPS?,What treatment options do you recommend for my specific case, and what results can I realistically expect?,Will the bumps and rash go away on their own over time, or will I need ongoing treatment?,Are there any clinical trials or newer treatments I should know about?,How can I best protect my skin and prevent scarring?,Should other family members be evaluated for related connective tissue conditions?

Common questions about Elastosis perforans serpiginosa

What is Elastosis perforans serpiginosa?

Elastosis perforans serpiginosa (EPS) is a rare skin condition where abnormal elastic fibers — the stretchy proteins that help skin bounce back — are pushed out through the outer layer of the skin. The body tries to get rid of these unusual fibers, and this process creates small, firm bumps that often form curved or snake-like patterns on the skin. The name 'serpiginosa' actually comes from the Latin word for 'creeping,' which describes how the rash tends to spread in a winding shape. EPS most often appears on the neck, but it can also show up on the face, arms, and trunk. The main symptoms a

At what age does Elastosis perforans serpiginosa typically begin?

Typical onset of Elastosis perforans serpiginosa is juvenile. Age of onset can vary across affected individuals.