Overview
Congenital ichthyosis with trichothiodystrophy (TTD) is a rare genetic skin and hair disorder that is present from birth. This condition has been reclassified (marked as 'obsolete' in some databases) because it is now grouped under the broader category of trichothiodystrophy syndromes. The disease affects the skin and hair due to problems with sulfur-rich proteins. People with this condition are born with dry, thick, scaly skin (called ichthyosis) along with brittle, fragile hair that breaks easily. When examined under a special microscope with polarized light, the hair shows a characteristic 'tiger tail' banding pattern, which is a hallmark of trichothiodystrophy. The underlying cause involves mutations in genes responsible for DNA repair and transcription, most commonly the ERCC2 (XPD) and ERCC3 (XPB) genes. Because these genes play important roles beyond just skin and hair, some patients may also experience growth problems, intellectual disability, sensitivity to sunlight, and recurrent infections. The severity varies widely from person to person. There is currently no cure for this condition. Treatment focuses on managing symptoms, including regular use of moisturizers and emollients for the skin, gentle hair care to minimize breakage, and monitoring for any associated complications such as infections or developmental delays. A team of specialists is usually needed to provide comprehensive care.
Key symptoms:
Dry, thick, scaly skin present from birthBrittle hair that breaks easilyShort, sparse hairTiger tail pattern of hair under polarized light microscopySensitivity to sunlight in some casesShort stature or poor growthIntellectual disability or developmental delays in some casesRecurrent infectionsAbnormal nails that are brittle or ridgedLow birth weightReduced fertility in some casesDry, red, or irritated skin
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital ichthyosis with trichothiodystrophy.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital ichthyosis with trichothiodystrophy.
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 OBSOLETE: Congenital ichthyosis with trichothiodystrophy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How severe is my child's condition, and which body systems are affected?,What is the specific genetic mutation, and what does it mean for my child's outlook?,What skin care products and routines do you recommend?,Should my child avoid sun exposure, and if so, what precautions should we take?,Are there developmental assessments or therapies my child should start now?,What signs of infection should I watch for, and when should I seek emergency care?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about OBSOLETE: Congenital ichthyosis with trichothiodystrophy
What is OBSOLETE: Congenital ichthyosis with trichothiodystrophy?
Congenital ichthyosis with trichothiodystrophy (TTD) is a rare genetic skin and hair disorder that is present from birth. This condition has been reclassified (marked as 'obsolete' in some databases) because it is now grouped under the broader category of trichothiodystrophy syndromes. The disease affects the skin and hair due to problems with sulfur-rich proteins. People with this condition are born with dry, thick, scaly skin (called ichthyosis) along with brittle, fragile hair that breaks easily. When examined under a special microscope with polarized light, the hair shows a characteristic
How is OBSOLETE: Congenital ichthyosis with trichothiodystrophy inherited?
OBSOLETE: Congenital ichthyosis with trichothiodystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Congenital ichthyosis with trichothiodystrophy typically begin?
Typical onset of OBSOLETE: Congenital ichthyosis with trichothiodystrophy is neonatal. Age of onset can vary across affected individuals.