Acral self-healing collodion baby

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ORPHA:281127OMIM:242300Q80.2
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Overview

Acral self-healing collodion baby is an extremely rare skin condition that belongs to the group of inherited skin disorders called ichthyoses. Babies with this condition are born wrapped in a tight, shiny membrane called a collodion membrane, but unlike classic collodion baby presentations, the membrane is mainly limited to the hands and feet (the acral areas). Within the first few weeks of life, this membrane naturally peels off and the skin underneath heals on its own without the need for major medical treatment. This is why the condition is described as 'self-healing.' The condition is caused by changes in genes involved in skin barrier formation, specifically the TGM1 gene, which provides instructions for making an enzyme important for normal skin development. Because the membrane is restricted to the extremities and resolves spontaneously, the long-term outlook is generally very good. After the collodion membrane sheds, the skin typically appears normal or near-normal, though some mild dryness or scaling may persist in some individuals. Treatment is mainly supportive during the newborn period, focusing on keeping the skin moisturized, preventing infection, and monitoring for any complications related to the tight membrane on the hands and feet. This condition is considered one of the mildest forms within the collodion baby spectrum.

Also known as:

Key symptoms:

Tight, shiny membrane covering the hands and feet at birthRestricted movement of fingers and toes due to the membraneDry or cracked skin on the hands and feetPeeling skin in the first weeks of lifeMild redness of the skin underneath the membranePossible mild skin dryness after the membrane shedsTightness of the skin around the fingers or toes

Clinical phenotype terms (6)— hover any for plain English
Edema of the dorsum of handsHP:0007514Localized epidermolytic hyperkeratosisHP:0007559Edema of the dorsum of feetHP:0012098Palmoplantar scaling skinHP:0025524Lack of skin elasticityHP:0100679
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 Acral self-healing collodion baby.

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No actively recruiting trials found for Acral self-healing collodion baby at this time.

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No specialists are currently listed for Acral self-healing collodion baby.

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

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my baby's condition definitely the self-healing type, or could it develop into a more severe form of ichthyosis?,What specific skin care routine should I follow during the newborn period?,What signs of infection or complications should I watch for?,Should we pursue genetic testing to confirm the diagnosis?,What is the chance that future children could be affected?,Will my child need any long-term skin care or follow-up?,Are there any specialists we should see regularly?

Common questions about Acral self-healing collodion baby

What is Acral self-healing collodion baby?

Acral self-healing collodion baby is an extremely rare skin condition that belongs to the group of inherited skin disorders called ichthyoses. Babies with this condition are born wrapped in a tight, shiny membrane called a collodion membrane, but unlike classic collodion baby presentations, the membrane is mainly limited to the hands and feet (the acral areas). Within the first few weeks of life, this membrane naturally peels off and the skin underneath heals on its own without the need for major medical treatment. This is why the condition is described as 'self-healing.' The condition is caus

How is Acral self-healing collodion baby inherited?

Acral self-healing collodion baby follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acral self-healing collodion baby typically begin?

Typical onset of Acral self-healing collodion baby is neonatal. Age of onset can vary across affected individuals.