Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

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ORPHA:281201OMIM:601952Q82.8
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Overview

Keratosis linearis–ichthyosis congenita–sclerosing keratoderma syndrome, often called KLICK syndrome, is an extremely rare inherited skin disorder. The name describes its three main features: keratosis linearis (lines of thickened, rough skin), ichthyosis congenita (a condition present from birth where the skin is dry, scaly, and fish-like in appearance), and sclerosing keratoderma (hardened, thickened skin on the palms of the hands and soles of the feet). Babies with KLICK syndrome are often born with a tight, shiny membrane covering their skin, known as a collodion membrane, which peels off in the first weeks of life. After this membrane sheds, the characteristic skin findings become more apparent. The skin can be very dry and scaly over much of the body, and distinctive linear (line-shaped) areas of thickened skin may develop, especially around skin folds and on the limbs. The thickened skin on the palms and soles can restrict movement and cause discomfort. Because the skin barrier is impaired, affected individuals may be more prone to skin infections and may have difficulty regulating body temperature, especially in infancy. There is currently no cure for KLICK syndrome. Treatment focuses on managing symptoms, primarily through intensive skin moisturizing, use of keratolytic agents to soften thickened skin, and monitoring for complications such as infections or overheating. With proper skin care and medical follow-up, many individuals can manage their symptoms, though the condition is lifelong.

Also known as:

Key symptoms:

Collodion membrane at birth (tight, shiny skin covering the newborn)Dry, scaly skin over much of the body (ichthyosis)Linear ridges or lines of thickened skin, especially in skin foldsThickened, hardened skin on palms and soles (keratoderma)Restricted finger or hand movement due to tight skinSkin cracking and fissuringRedness of the skinDifficulty sweating or regulating body temperatureIncreased risk of skin infectionsTightness or constriction around fingers or toesMild hair abnormalities

Clinical phenotype terms (2)— hover any for plain English
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome.

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No actively recruiting trials found for Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome at this time.

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No specialists are currently listed for Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the best daily skin care routine for my child's specific symptoms?,Are there any medicated creams or oral medications that could help with the thickened skin?,How can we prevent and quickly treat skin infections?,Should we pursue genetic testing for other family members or for future family planning?,Are there any activities or environments my child should avoid?,How often should we schedule follow-up visits with the dermatologist?,Are there any clinical trials or new research studies we should know about?

Common questions about Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

What is Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome?

Keratosis linearis–ichthyosis congenita–sclerosing keratoderma syndrome, often called KLICK syndrome, is an extremely rare inherited skin disorder. The name describes its three main features: keratosis linearis (lines of thickened, rough skin), ichthyosis congenita (a condition present from birth where the skin is dry, scaly, and fish-like in appearance), and sclerosing keratoderma (hardened, thickened skin on the palms of the hands and soles of the feet). Babies with KLICK syndrome are often born with a tight, shiny membrane covering their skin, known as a collodion membrane, which peels off

How is Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome inherited?

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome typically begin?

Typical onset of Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is neonatal. Age of onset can vary across affected individuals.