Overview
Hereditary benign intraepithelial dyskeratosis (HBID), also known as Witkop disease or Witkop-Von Sallmann syndrome, is a rare genetic condition that affects the surface tissues (epithelium) of the eyes and mouth. People with this condition develop raised, white or grayish plaques on the inner lining of the mouth (oral mucosa) and on the surface of the eyes (conjunctiva and cornea). The eye involvement can cause redness, irritation, tearing, and a feeling of grittiness, and in some cases the growths on the eye surface can affect vision. The mouth plaques are usually painless and appear on the gums, inner cheeks, tongue, and floor of the mouth. These changes are typically present from early childhood and persist throughout life. Despite the word 'dyskeratosis' in the name, this condition is considered benign, meaning it does not turn into cancer. The abnormal tissue growths result from a problem in how the surface skin cells mature and shed. Treatment is mainly focused on managing symptoms. Eye drops, lubricants, and sometimes surgical removal of eye plaques may be needed to protect vision and relieve discomfort. The oral plaques usually do not require treatment unless they cause problems. Regular monitoring by eye and dental specialists is important to manage the condition over time.
Key symptoms:
White or grayish raised patches on the inside of the mouthWhite or grayish growths on the surface of the eyeRed, irritated eyesExcessive tearing of the eyesGritty or foreign body sensation in the eyesBlurred vision if eye growths affect the corneaThickened tissue on the gums, cheeks, or tongueLight sensitivityEye inflammation that comes and goesPainless white plaques in the mouth
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 Hereditary benign intraepithelial dyskeratosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hereditary benign intraepithelial dyskeratosis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Hereditary benign intraepithelial dyskeratosis.
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 Hereditary benign intraepithelial dyskeratosis.
Community
No community posts yet. Be the first to share your experience with Hereditary benign intraepithelial dyskeratosis.
Start the conversation →Latest news about Hereditary benign intraepithelial dyskeratosis
No recent news articles for Hereditary benign intraepithelial dyskeratosis.
Follow this condition to be notified when news becomes available.
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 eyes (or my child's eyes) be checked for new growths?,What signs should I watch for that would mean the eye plaques need to be removed?,Are there eye drops or treatments that can slow the growth of the plaques?,If surgery is needed to remove eye plaques, how likely are they to come back?,Should other family members be examined for this condition?,Is genetic testing recommended for our family, and what would it involve?,Are there any activities or environmental factors I should avoid to protect my eyes?
Common questions about Hereditary benign intraepithelial dyskeratosis
What is Hereditary benign intraepithelial dyskeratosis?
Hereditary benign intraepithelial dyskeratosis (HBID), also known as Witkop disease or Witkop-Von Sallmann syndrome, is a rare genetic condition that affects the surface tissues (epithelium) of the eyes and mouth. People with this condition develop raised, white or grayish plaques on the inner lining of the mouth (oral mucosa) and on the surface of the eyes (conjunctiva and cornea). The eye involvement can cause redness, irritation, tearing, and a feeling of grittiness, and in some cases the growths on the eye surface can affect vision. The mouth plaques are usually painless and appear on the
How is Hereditary benign intraepithelial dyskeratosis inherited?
Hereditary benign intraepithelial dyskeratosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary benign intraepithelial dyskeratosis typically begin?
Typical onset of Hereditary benign intraepithelial dyskeratosis is childhood. Age of onset can vary across affected individuals.