OBSOLETE: Peeling skin syndrome type C

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ORPHA:263558
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Overview

Peeling skin syndrome type C (also known as peeling skin syndrome, inflammatory type or peeling skin disease type C) was a clinical subtype designation within the peeling skin syndromes, a group of rare inherited skin disorders characterized by painless, spontaneous superficial peeling (exfoliation) of the skin. This particular subtype was distinguished by generalized peeling of the skin accompanied by significant inflammatory features, including widespread redness (erythroderma), pruritus (itching), and sometimes associated atopic manifestations such as elevated IgE levels, food allergies, and asthma. The skin barrier dysfunction leads to recurrent superficial shedding of the outermost layer of the epidermis (stratum corneum), which can be present from birth or early infancy. This Orphanet entry (ORPHA:263558) is now classified as OBSOLETE, meaning the designation 'peeling skin syndrome type C' is no longer considered a distinct clinical entity in current nosology. The condition has been reclassified and merged into the broader category of peeling skin syndrome or more specifically into SAM syndrome (severe dermatitis, multiple allergies, and metabolic wasting) or other molecularly defined peeling skin disorders, depending on the underlying genetic cause. Mutations in genes such as CDSN (corneodesmosin) and TGM5 (transglutaminase 5) have been associated with various forms of peeling skin syndrome, while the inflammatory type has been linked to mutations in CDSN or other desmosomal genes. Treatment remains symptomatic and supportive, including emollients to maintain skin hydration, topical anti-inflammatory agents, and management of allergic and atopic complications. No curative therapy currently exists for any form of peeling skin syndrome.

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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 ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Peeling skin syndrome type C.

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No actively recruiting trials found for OBSOLETE: Peeling skin syndrome type C at this time.

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No specialists are currently listed for OBSOLETE: Peeling skin syndrome type C.

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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

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Community

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Common questions about OBSOLETE: Peeling skin syndrome type C

What is OBSOLETE: Peeling skin syndrome type C?

Peeling skin syndrome type C (also known as peeling skin syndrome, inflammatory type or peeling skin disease type C) was a clinical subtype designation within the peeling skin syndromes, a group of rare inherited skin disorders characterized by painless, spontaneous superficial peeling (exfoliation) of the skin. This particular subtype was distinguished by generalized peeling of the skin accompanied by significant inflammatory features, including widespread redness (erythroderma), pruritus (itching), and sometimes associated atopic manifestations such as elevated IgE levels, food allergies, an

How is OBSOLETE: Peeling skin syndrome type C inherited?

OBSOLETE: Peeling skin syndrome type C follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Peeling skin syndrome type C typically begin?

Typical onset of OBSOLETE: Peeling skin syndrome type C is neonatal. Age of onset can vary across affected individuals.