Living with Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
An inherited skin condition with thick palms and soles, rough cord-like bumps at joint folds, and tight bands around the fingers.
Understanding Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
People have thick palms and soles, lines of rough bumps at the inner side of large joints such as the wrists, elbows, and knees, thick plaques on the neck, armpits, elbows, wrists, and knees, and mild scaling. Tight bands around the fingers can cause bending deformities. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on the palms and soles
- Scaly, dry skin (ichthyosis)
- Rows of rough bumps at joint folds
- Thick plaques on the neck, armpits, and elbows
- Tight bands around the fingers
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in POMP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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
Changes in the POMP gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome; klick syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome.
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