Overview
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is an extremely rare genetic condition that affects three main areas of the body: the eyes, the skin of the palms and soles, and the voice box (larynx). The term 'dyskeratosis' refers to abnormal development of the outer layer of cells (epithelium), while 'hyperkeratosis' means thickening of the skin. In this condition, the clear front surface of the eye (cornea) develops abnormal cell growth that can cause eye irritation, redness, and vision problems. The skin on the palms of the hands and soles of the feet becomes unusually thick and tough, which can sometimes be uncomfortable or cause cracking. The lining of the larynx (voice box) also develops abnormal tissue changes, which may lead to hoarseness or other voice difficulties. Because this syndrome is so rare, treatment is mainly focused on managing symptoms. Eye drops or other eye treatments may help with corneal symptoms, dermatological care can address the thickened skin, and ear-nose-throat specialists can monitor and manage laryngeal changes. There is currently no cure for this condition, and management requires a team of different specialists working together.
Key symptoms:
Red, irritated eyesWhite or grayish plaques on the surface of the eyeBlurred or decreased visionThickened skin on the palms of the handsThickened skin on the soles of the feetCracking or peeling of thickened skinHoarseness or changes in voiceDifficulty with voice projectionEye tearing or wateringSensitivity to lightDiscomfort when walking due to thick soles
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome.
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 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome.
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.How often should my child's eyes, skin, and voice box be checked?,Are there specific eye drops or skin treatments that work best for this condition?,What signs should I watch for that would need urgent medical attention?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,Will the corneal changes get worse over time, and could they lead to significant vision loss?,Are there any clinical trials or research studies we could participate in?,What accommodations might be helpful at school or work?
Common questions about Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
What is Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome?
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is an extremely rare genetic condition that affects three main areas of the body: the eyes, the skin of the palms and soles, and the voice box (larynx). The term 'dyskeratosis' refers to abnormal development of the outer layer of cells (epithelium), while 'hyperkeratosis' means thickening of the skin. In this condition, the clear front surface of the eye (cornea) develops abnormal cell growth that can cause eye irritation, redness, and vision problems. The skin on the palms of the hands and soles
How is Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome inherited?
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome typically begin?
Typical onset of Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is childhood. Age of onset can vary across affected individuals.