Overview
Generalized peeling skin syndrome (PSS), also known as peeling skin disease or keratolysis exfoliativa congenita, is a rare inherited skin disorder characterized by painless, spontaneous, and continuous superficial peeling (exfoliation) of the skin over large areas of the body. The condition belongs to a group of peeling skin syndromes and is classified under the broader category of ichthyoses and related keratinization disorders (ICD-10: Q80.8). The skin peeling typically affects the entire body surface, though severity can vary. Patients may experience associated features including pruritus (itching), short stature, skin fragility, and erythema (redness) of the underlying skin. In some forms, patients may also develop atopic-like features such as elevated IgE levels, food allergies, and asthma. The disease primarily affects the integumentary system (skin). The underlying defect involves abnormal separation within the outer layers of the epidermis (the corneodesmosome layer), leading to detachment of the outermost skin layer (stratum corneum). Mutations in several genes have been identified, including CDSN (corneodesmosin), TGM5 (transglutaminase 5), CHST8, and CSTA (cystatin A), depending on the specific subtype. Generalized PSS is further subdivided into non-inflammatory (type A) and inflammatory (type B) forms, with the inflammatory form being associated with more prominent erythema, pruritus, and atopic manifestations. There is currently no cure for generalized peeling skin syndrome. Treatment is symptomatic and supportive, focusing on skin hydration with emollients and moisturizers, avoidance of skin trauma and excessive heat or humidity that may worsen peeling, and management of pruritus with antihistamines or topical corticosteroids when needed. Keratolytic agents may sometimes be used cautiously. Patients with the inflammatory subtype may require management of associated allergic or atopic conditions. Genetic counseling is recommended for affected families. The condition is lifelong but is not life-threatening, and symptoms may fluctuate over time.
Also known as:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Generalized peeling skin syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Generalized peeling skin syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
2 resourcesDAWNZERA
Ionis Pharmaceuticals Inc.
DAWNZERA — Contact Ionis Pharmaceuticals Inc.
L-Glutamine
ANI Pharmaceuticals, Inc.
L-Glutamine — Contact ANI Pharmaceuticals, Inc.
Travel Grants
No travel grants are currently matched to Generalized peeling skin syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Generalized peeling skin syndrome
What is Generalized peeling skin syndrome?
Generalized peeling skin syndrome (PSS), also known as peeling skin disease or keratolysis exfoliativa congenita, is a rare inherited skin disorder characterized by painless, spontaneous, and continuous superficial peeling (exfoliation) of the skin over large areas of the body. The condition belongs to a group of peeling skin syndromes and is classified under the broader category of ichthyoses and related keratinization disorders (ICD-10: Q80.8). The skin peeling typically affects the entire body surface, though severity can vary. Patients may experience associated features including pruritus
How is Generalized peeling skin syndrome inherited?
Generalized peeling skin syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Generalized peeling skin syndrome typically begin?
Typical onset of Generalized peeling skin syndrome is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Generalized peeling skin syndrome?
2 patient support programs are currently tracked on UniteRare for Generalized peeling skin syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.