Overview
Epidermolytic nevus is a rare skin condition where patches of skin develop a thickened, rough, or warty appearance due to a problem in the way skin cells form and shed. The word 'nevus' means a birthmark or skin growth, and 'epidermolytic' refers to the breakdown of the outer layer of skin cells. This condition is also sometimes called an epidermolytic epidermal nevus or a nevus with epidermolytic hyperkeratosis. The affected skin patches are usually present from birth or appear in early childhood and tend to follow patterns along the body called Blaschko's lines, which are invisible lines that trace how skin cells migrated during development before birth. The skin in the affected areas may look thickened, scaly, darker than surrounding skin, or have a rough, wart-like texture. These patches can appear anywhere on the body and vary widely in size and number. The condition is caused by a change (mutation) in one of the genes responsible for making keratin, a protein that gives skin its strength and structure. This mutation happens in just some of the body's cells, a situation called mosaicism, which is why only certain patches of skin are affected rather than the whole body. There is no cure for epidermolytic nevus, but treatments can help manage the appearance and discomfort of the skin patches. Moisturizers, gentle exfoliants, and keratolytic creams are commonly used to soften and reduce scaling. In some cases, laser therapy or other dermatological procedures may be considered. The condition is generally not life-threatening, and most people live normal lifespans, though the skin changes can have a significant impact on self-esteem and quality of life.
Also known as:
Key symptoms:
Thickened, rough, or warty patches of skinScaly skin in the affected areasSkin patches that follow curved lines on the body (Blaschko's lines)Darker coloring in the affected skin patchesSkin that may blister or peel in the affected areasPatches present from birth or appearing in early childhoodSkin that may have an unpleasant odor due to bacterial buildup in the foldsItching or discomfort in the affected skin areas
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Epidermolytic nevus.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Epidermolytic nevus.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.Which genes are involved in my condition, and has genetic testing of my skin been done to confirm the diagnosis?,What skin care routine do you recommend for managing my specific patches?,Is there any risk that my children could develop a more widespread form of this skin condition?,Are there any clinical trials or new treatments I should know about?,When should I be concerned about a skin infection, and what should I do if one develops?,Are there any triggers I should avoid that could make my skin worse?,Should I see a genetic counselor, and what can they tell me about family planning?
Common questions about Epidermolytic nevus
What is Epidermolytic nevus?
Epidermolytic nevus is a rare skin condition where patches of skin develop a thickened, rough, or warty appearance due to a problem in the way skin cells form and shed. The word 'nevus' means a birthmark or skin growth, and 'epidermolytic' refers to the breakdown of the outer layer of skin cells. This condition is also sometimes called an epidermolytic epidermal nevus or a nevus with epidermolytic hyperkeratosis. The affected skin patches are usually present from birth or appear in early childhood and tend to follow patterns along the body called Blaschko's lines, which are invisible lines tha
How is Epidermolytic nevus inherited?
Epidermolytic nevus follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epidermolytic nevus typically begin?
Typical onset of Epidermolytic nevus is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Epidermolytic nevus?
1 specialists and care centers treating Epidermolytic nevus are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.