Pollitt syndrome

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Overview

Pollitt syndrome, also known as trichothiodystrophy with photosensitivity (or TTD-P), is a very rare inherited condition that affects multiple parts of the body. The name 'trichothiodystrophy' refers to brittle, sulfur-deficient hair, which is one of the most recognizable features of this condition. Pollitt syndrome is considered a form of trichothiodystrophy (TTD) that includes sensitivity to sunlight (photosensitivity) as a key feature. The condition affects the skin, hair, nails, nervous system, and overall growth and development. People with Pollitt syndrome often have very fragile hair that breaks easily and shows a distinctive tiger-tail banding pattern when viewed under a special microscope. Many individuals also experience intellectual disability, delayed development, short stature, and problems with coordination. Because the body has trouble repairing damage caused by ultraviolet (UV) light, the skin can be very sensitive to sun exposure. There is currently no cure for Pollitt syndrome. Treatment focuses on managing symptoms, protecting the skin from sun damage, supporting development through therapies, and monitoring for complications. A team of specialists is usually needed to provide the best care.

Also known as:

Key symptoms:

Brittle, easily broken hair that is low in sulfurSensitivity to sunlight (skin burns easily or reacts badly to UV light)Intellectual disability or learning difficultiesDelayed development (sitting, walking, talking later than expected)Short stature (smaller than average height)Dry, scaly skin (ichthyosis)Fragile or abnormal nailsPoor coordination and balance problemsDistinctive facial features (such as a small head size)Recurrent infections due to a weakened immune system in some casesFertility problems in some individuals

Inheritance

Autosomal recessive

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

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Pollitt syndrome.

View clinical trials →

No actively recruiting trials found for Pollitt syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Pollitt syndrome community →

No specialists are currently listed for Pollitt 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 Pollitt syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Pollitt syndrome

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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 specific gene mutation does my child have, and what does that mean for their prognosis?,What level of sun protection is needed, and are there specific products or clothing you recommend?,What developmental therapies should we start, and how often should they happen?,Are there any clinical trials or research studies we could participate in?,What signs of complications should prompt us to seek emergency care?,How often should we have follow-up appointments, and with which specialists?,Are other family members at risk, and should they be tested?

Common questions about Pollitt syndrome

What is Pollitt syndrome?

Pollitt syndrome, also known as trichothiodystrophy with photosensitivity (or TTD-P), is a very rare inherited condition that affects multiple parts of the body. The name 'trichothiodystrophy' refers to brittle, sulfur-deficient hair, which is one of the most recognizable features of this condition. Pollitt syndrome is considered a form of trichothiodystrophy (TTD) that includes sensitivity to sunlight (photosensitivity) as a key feature. The condition affects the skin, hair, nails, nervous system, and overall growth and development. People with Pollitt syndrome often have very fragile hair t

How is Pollitt syndrome inherited?

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

At what age does Pollitt syndrome typically begin?

Typical onset of Pollitt syndrome is neonatal. Age of onset can vary across affected individuals.