Living with Keratitis ichthyosis and deafness syndrome
A genetic condition with eye surface inflammation, thick scaly skin, and hearing loss, starting at birth.
Understanding Keratitis ichthyosis and deafness syndrome
Most people have keratitis, inflammation of the front of the eye, which can cause pain, light sensitivity, and scarring and reduce vision over time. Most have thick, hard skin on the palms and soles and dry, scaly, reddened patches elsewhere. Skin breaks can lead to infection. About 12 percent develop a skin cancer called squamous cell carcinoma. Partial hair loss and small, abnormal nails are common. Hearing loss is usually profound.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Inflammation of the cornea (keratitis)
- Light sensitivity
- Thick, scaly skin
- Hearing loss from birth
- Hair loss, especially eyebrows and eyelashes
- Small, abnormal nails
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types, National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: ichthyosis hystrix rheydt type; keratitis ichthyosis deafness syndrome; keratitis-ichthyosis-deafness syndrome; keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome; keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome; keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesKeratitis ichthyosis and deafness syndrome · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Keratitis ichthyosis and deafness syndrome.
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