Living with Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
A rare inherited skin condition with peeling skin, white nails, thick spots on the hands and feet, and sore lips.
Understanding Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
The skin peels or forms shallow blisters without scarring, and appears dry and scaly. Other features include white nails, small thick spots on the palms and soles that merge on weight-bearing areas, painful cracks at the corners of the mouth, and knuckle pads. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Peeling, scaly skin
- Fragile skin and shallow blisters
- White nails (leukonychia)
- Small thick spots on palms and soles
- Painful cracks at the corners of the mouth
- White patches in the mouth
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 CAST 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 CAST gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome; peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome; peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome; plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome; plack syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
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