Erythrokeratodermia ataxia

Erythrokeratodermia Ataxia is a rare genetic disorder characterized by the combination of skin abnormalities and problems with motor coordination. The condition is extremely rare, with only a handful of cases reported in the medical literature.

Symptoms and Signs

The primary symptoms of Erythrokeratodermia Ataxia include erythema, which is a redness of the skin, and keratoderma, which is a thickening of the skin. These skin abnormalities typically appear in infancy or early childhood. The erythema often occurs in a symmetrical pattern on the body and can be intensified by heat, friction, or emotional stress. The keratoderma can affect any part of the body but is most commonly seen on the palms of the hands and the soles of the feet.

In addition to skin abnormalities, individuals with Erythrokeratodermia Ataxia often have problems with motor coordination, or ataxia. This can result in difficulty with balance and coordination, problems with fine motor skills such as writing or buttoning a shirt, and a tremor that worsens with movement.

Causes

Erythrokeratodermia Ataxia is caused by mutations in the GJB3 gene, which provides instructions for making a protein that forms channels in the cell membrane. These channels allow potassium ions to flow in and out of cells, which is important for maintaining the normal function of skin cells and nerve cells. Mutations in the GJB3 gene disrupt the function of these channels, leading to the symptoms of Erythrokeratodermia Ataxia.

Diagnosis and Treatment

Diagnosis of Erythrokeratodermia Ataxia is based on the presence of characteristic symptoms and can be confirmed by genetic testing. Treatment is focused on managing the symptoms and may include the use of emollients to soften the skin and physical therapy to improve motor coordination.

See Also

• Genetic disorder
• Ataxia
• Erythema
• Keratoderma

NIH genetic and rare disease info

• NIH info on Erythrokeratodermia ataxia

Erythrokeratodermia ataxia is a rare disease.