Overview
Pure hair and nail ectodermal dysplasia (PHNED) is a rare inherited condition that mainly affects the hair and nails. Unlike many other forms of ectodermal dysplasia, this condition does not affect the teeth, sweat glands, or other parts of the body — just the hair and nails. It is sometimes called 'pure' ectodermal dysplasia because of this focused pattern. People with this condition are often born with very sparse, thin, or absent hair on the scalp and body. The nails may be underdeveloped, brittle, thickened, ridged, or completely absent from birth or early childhood. The condition is caused by changes (mutations) in certain genes that guide how hair follicles and nails develop before and after birth. Several different genes have been linked to this condition, and it can be inherited in different ways depending on which gene is involved. Because the symptoms are limited to hair and nails, the condition does not usually affect a person's overall health or lifespan. There is no cure for pure hair and nail ectodermal dysplasia, but the symptoms can be managed. Wigs, hairpieces, and nail care strategies can greatly improve quality of life and self-confidence. Dermatologists and clinical geneticists are the main specialists involved in care. Early diagnosis is important so that families can receive proper support, genetic counseling, and guidance on managing the cosmetic and practical challenges of the condition.
Also known as:
Key symptoms:
Very sparse or absent scalp hair from birth or early childhoodThin, fragile, or slow-growing hairAbsent or underdeveloped fingernails and toenailsBrittle or easily broken nailsThickened or ridged nailsSparse or absent eyebrows and eyelashesSparse body hairNails that are discolored or abnormally shapedHair that breaks easily and does not grow to normal length
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pure hair and nail ectodermal dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Pure hair and nail ectodermal dysplasia at this time.
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Specialists
View all specialists →No specialists are currently listed for Pure hair and nail ectodermal dysplasia.
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 Pure hair and nail ectodermal dysplasia.
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 gene is causing this condition in our family, and what does that mean for other family members?,What type of genetic testing do you recommend, and how long will results take?,Are there any treatments or supplements that might help the hair or nails grow better?,What specialists should we see regularly, and how often?,Are there any clinical trials or research studies we could participate in?,How can we best support our child's emotional wellbeing and self-confidence?,What is the chance that future children in our family could be affected?
Common questions about Pure hair and nail ectodermal dysplasia
What is Pure hair and nail ectodermal dysplasia?
Pure hair and nail ectodermal dysplasia (PHNED) is a rare inherited condition that mainly affects the hair and nails. Unlike many other forms of ectodermal dysplasia, this condition does not affect the teeth, sweat glands, or other parts of the body — just the hair and nails. It is sometimes called 'pure' ectodermal dysplasia because of this focused pattern. People with this condition are often born with very sparse, thin, or absent hair on the scalp and body. The nails may be underdeveloped, brittle, thickened, ridged, or completely absent from birth or early childhood. The condition is caus
At what age does Pure hair and nail ectodermal dysplasia typically begin?
Typical onset of Pure hair and nail ectodermal dysplasia is neonatal. Age of onset can vary across affected individuals.