Lamellar recessive ichthyosis

Lamellar Recessive Ichthyosis

Lamellar recessive ichthyosis is a rare genetic skin disorder characterized by the presence of large, dark, plate-like scales covering most of the body. It is one of the forms of autosomal recessive congenital ichthyosis (ARCI), a group of disorders that affect the skin's ability to shed dead cells, leading to the accumulation of scales.

Etiology

Lamellar recessive ichthyosis is caused by mutations in genes that are involved in the formation and maintenance of the skin barrier. The most commonly implicated gene is the TGM1 gene, which encodes the enzyme transglutaminase 1. This enzyme is crucial for the formation of the cornified cell envelope, a structure that provides mechanical strength and water resistance to the skin.

Clinical Features

Patients with lamellar recessive ichthyosis typically present at birth with a collodion membrane, a shiny, taut film covering the skin. As the membrane sheds, it reveals the characteristic scales. The scales are usually large, dark, and plate-like, and they can cover the entire body. Other features may include:

• Ectropion, or outward turning of the eyelids
• Eclabium, or outward turning of the lips
• Palmoplantar keratoderma, thickening of the skin on the palms and soles
• Heat intolerance due to impaired sweating

Diagnosis

Diagnosis is primarily clinical, based on the appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in the TGM1 gene or other related genes. A skin biopsy may show hyperkeratosis and other histological changes typical of ichthyosis.

Management

There is no cure for lamellar recessive ichthyosis, but treatment focuses on managing symptoms and improving quality of life. Common treatments include:

• Emollients and moisturizers to hydrate the skin and reduce scaling
• Keratolytic agents, such as salicylic acid, to help remove scales
• Retinoids, such as acitretin, which can reduce scaling and improve skin appearance
• Regular bathing and exfoliation to remove scales

Prognosis

The prognosis for individuals with lamellar recessive ichthyosis varies. While the condition is lifelong, many patients can manage their symptoms effectively with treatment. However, complications such as skin infections and heat intolerance can affect quality of life.

Also see

• Ichthyosis vulgaris
• Harlequin ichthyosis
• X-linked ichthyosis
• Congenital ichthyosiform erythroderma

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