Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

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ORPHA:444138OMIM:616295Q82.8
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Overview

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome is a very rare inherited skin disorder. It is sometimes referred to by the abbreviation PLACK syndrome. This condition affects the skin and nails in several distinct ways at the same time. People with PLACK syndrome experience peeling of the outer layer of skin, white discoloration of the nails (called leukonychia), small hard bumps on the palms and soles (acral punctate keratoses), cracking and inflammation of the lips (cheilitis), and thickened skin over the knuckles (knuckle pads). These features are all present together, which is what makes this syndrome unique. The skin changes can cause discomfort and affect appearance, which may impact a person's confidence and daily life. The nails may look white or opaque rather than clear or pink. The bumps on the hands and feet can sometimes be tender or uncomfortable. Lip cracking can be painful and may make eating or speaking uncomfortable. Currently, there is no cure for PLACK syndrome. Treatment focuses on managing symptoms, such as using moisturizers, emollients, and protective measures for the skin and nails. Because this condition is so rare, most care is guided by dermatologists with experience in inherited skin disorders. Early diagnosis through genetic testing is important so that families can receive proper guidance and support.

Also known as:

Key symptoms:

Peeling of the outer layer of skinWhite or opaque nails (leukonychia)Small hard bumps on the palms and soles of the feetCracked, dry, or inflamed lips (cheilitis)Thickened skin pads over the knucklesSkin fragility or sensitivityDiscomfort or tenderness on the hands and feet

Inheritance

Autosomal recessive

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

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome.

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No actively recruiting trials found for Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome at this time.

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No specialists are currently listed for Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads 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 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome.

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Community

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Latest news about Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What skin care routine do you recommend for managing the peeling and dryness?,Are there any prescription creams or treatments that could help with the bumps on the hands and feet?,Should other family members be tested for this condition?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to come in sooner between scheduled appointments?,Can you refer us to a genetic counselor to help us understand the inheritance and family planning options?

Common questions about Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

What is Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome?

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome is a very rare inherited skin disorder. It is sometimes referred to by the abbreviation PLACK syndrome. This condition affects the skin and nails in several distinct ways at the same time. People with PLACK syndrome experience peeling of the outer layer of skin, white discoloration of the nails (called leukonychia), small hard bumps on the palms and soles (acral punctate keratoses), cracking and inflammation of the lips (cheilitis), and thickened skin over the knuckles (knuckle pads). These features are all prese

How is Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome inherited?

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome typically begin?

Typical onset of Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome is childhood. Age of onset can vary across affected individuals.