Non-bullous congenital ichthyosiform erythroderma

Non-bullous Congenital Ichthyosiform Erythroderma Non-bullous Congenital Ichthyosiform Erythroderma (NBCIE) is a rare genetic skin disorder characterized by widespread redness and scaling of the skin. It is one of the major forms of Congenital Ichthyosis, a group of disorders that affect the skin's ability to shed dead cells, leading to thick, scaly skin.

Clinical Features

NBCIE is present at birth and is characterized by:

• Erythroderma: A generalized redness of the skin.
• Scaling: Fine, white scales that cover the skin.
• Hyperkeratosis: Thickening of the outer layer of the skin.

Patients may also experience:

• Ectropion: Outward turning of the eyelids.
• Alopecia: Hair loss.
• Palmar and plantar keratoderma: Thickening of the skin on the palms and soles.

Genetic Basis

NBCIE is primarily caused by mutations in genes responsible for skin barrier function. The most commonly affected genes include:

• TGM1: Encodes transglutaminase 1, an enzyme crucial for the formation of the skin barrier.
• ALOX12B and ALOXE3: Involved in lipid metabolism in the skin.

These mutations lead to a defective skin barrier, resulting in the symptoms observed in NBCIE.

Diagnosis

Diagnosis of NBCIE is based on:

• Clinical examination: Observation of characteristic skin features.
• Genetic testing: Identification of mutations in the relevant genes.
• Histopathology: Skin biopsy showing specific changes in the epidermis.

Management

There is no cure for NBCIE, but management focuses on alleviating symptoms:

• Emollients and moisturizers: To hydrate the skin and reduce scaling.
• Keratolytic agents: Such as salicylic acid to help remove scales.
• Retinoids: Oral or topical retinoids may be used to reduce scaling.

Prognosis

The prognosis for individuals with NBCIE varies. While the condition is lifelong, symptoms can often be managed effectively with appropriate treatment. Regular follow-up with a dermatologist is recommended.

Research and Future Directions

Ongoing research aims to better understand the genetic basis of NBCIE and develop targeted therapies. Gene therapy and advanced topical treatments are areas of active investigation.

See Also

• Congenital Ichthyosis
• Erythroderma
• Genetic Skin Disorders

NIH genetic and rare disease info

• NIH info on Non-bullous congenital ichthyosiform erythroderma

Non-bullous congenital ichthyosiform erythroderma is a rare disease.