Trichodysplasia-xeroderma syndrome

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ORPHA:3361OMIM:190360L67.8
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Overview

Trichodysplasia-xeroderma syndrome is an extremely rare genetic condition that primarily affects the hair and skin. The name describes its two main features: trichodysplasia, which refers to abnormal hair growth and structure, and xeroderma, which means unusually dry skin. People with this syndrome typically develop sparse, brittle, or abnormally formed hair along with very dry, rough skin that may appear scaly or thickened. These skin and hair problems are usually present from early in life and can affect a person's comfort and appearance. Because this condition is so rare, medical knowledge about it is limited. The hair abnormalities may involve the scalp hair, eyebrows, eyelashes, and body hair. The dry skin can range from mild to severe and may worsen in certain weather conditions or with age. Some affected individuals may also have additional features such as nail abnormalities or other skin-related findings. There is currently no cure for trichodysplasia-xeroderma syndrome. Treatment focuses on managing symptoms, particularly keeping the skin well-moisturized and protecting it from further damage. Dermatologists can recommend specialized skin care routines, emollients, and other therapies to improve skin comfort and appearance. Hair care strategies may also be recommended to minimize breakage and improve the look of affected hair. Because so few cases have been described in the medical literature, treatment approaches are largely individualized based on each patient's specific symptoms and needs.

Key symptoms:

Sparse or thin hairBrittle or easily breakable hairAbnormal hair texture or structureVery dry skinRough or scaly skinThickened skin in some areasPossible nail abnormalitiesReduced or absent eyebrows or eyelashesSkin that cracks or peels easily

Clinical phenotype terms (10)— hover any for plain English
Brittle hairHP:0002299TrichodysplasiaHP:0002552Pili tortiHP:0003777Trichorrhexis nodosaHP:0009886
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Trichodysplasia-xeroderma syndrome.

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No actively recruiting trials found for Trichodysplasia-xeroderma syndrome at this time.

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No specialists are currently listed for Trichodysplasia-xeroderma syndrome.

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 Trichodysplasia-xeroderma syndrome.

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Community

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Caregiver Resources

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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.What is the best daily skin care routine for managing the dryness?,Are there specific moisturizers or prescription creams you recommend?,Should we pursue genetic testing to better understand the cause?,Are there any treatments that could help improve hair growth or strength?,How often should we schedule follow-up dermatology visits?,Are there any signs of complications we should watch for at home?,Can you recommend resources or support for the emotional impact of this condition?

Common questions about Trichodysplasia-xeroderma syndrome

What is Trichodysplasia-xeroderma syndrome?

Trichodysplasia-xeroderma syndrome is an extremely rare genetic condition that primarily affects the hair and skin. The name describes its two main features: trichodysplasia, which refers to abnormal hair growth and structure, and xeroderma, which means unusually dry skin. People with this syndrome typically develop sparse, brittle, or abnormally formed hair along with very dry, rough skin that may appear scaly or thickened. These skin and hair problems are usually present from early in life and can affect a person's comfort and appearance. Because this condition is so rare, medical knowledge

How is Trichodysplasia-xeroderma syndrome inherited?

Trichodysplasia-xeroderma syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Trichodysplasia-xeroderma syndrome typically begin?

Typical onset of Trichodysplasia-xeroderma syndrome is childhood. Age of onset can vary across affected individuals.