Bébé–Collodion syndrome

Bébé–Collodion Syndrome is a rare genetic disorder that falls under the category of ichthyosis, a group of skin disorders characterized by dry, thickened, scaly skin. The syndrome is named "Collodion" due to the tight, shiny film that covers the skin of newborns affected by this condition, resembling collodion—a flammable substance used in early photography. This article provides an overview of Bébé–Collodion Syndrome, including its causes, symptoms, diagnosis, and treatment options.

Causes

Bébé–Collodion Syndrome is primarily caused by mutations in genes responsible for skin development and maintenance. The most commonly implicated genes include TGM1, ABCA12, ALOX12B, and ALOXE3, among others. These mutations are inherited in an autosomal recessive manner, meaning that a child must inherit one defective gene from each parent to develop the condition.

Symptoms

The hallmark symptom of Bébé–Collodion Syndrome is the collodion membrane, a tight, shiny film that covers the newborn's skin at birth. This membrane is usually shed within the first few weeks of life, revealing red, scaly skin underneath. Other symptoms may include:

• Ectropion (outward turning of the eyelids)
• Eclabium (outward turning of the lips)
• Hypohidrosis (reduced ability to sweat)
• Pruritus (itching)
• Increased risk of infections
• Possible complications such as dehydration and hypernatremia (high sodium levels in the blood) due to the skin barrier dysfunction

Diagnosis

Diagnosis of Bébé–Collodion Syndrome is primarily based on the clinical presentation and the characteristic appearance of the newborn's skin. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Prenatal diagnosis may be available for families with a known history of the condition.

Treatment

There is no cure for Bébé–Collodion Syndrome, but the condition can be managed with supportive care aimed at protecting the skin and preventing complications. Treatment options include:

• Regular application of emollients to moisturize the skin
• Use of keratolytic agents to reduce scaling
• Management of infections with antibiotics
• Careful monitoring and treatment of dehydration and electrolyte imbalances
• In severe cases, systemic retinoids may be prescribed to reduce scaling and improve skin flexibility

Prognosis

The prognosis for individuals with Bébé–Collodion Syndrome varies. Some infants may experience significant improvement as they grow, with their skin becoming more normal in appearance. However, others may develop more severe forms of ichthyosis and require ongoing treatment to manage their symptoms.

See Also

• Ichthyosis
• Genetic disorder
• Skin care

Bébé–Collodion syndrome Resources
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