Erythrokeratodermia with ataxia
Erythrokeratodermia with ataxia (pronunciation: eh-rith-ro-ker-a-to-der-mia with a-tax-ia) is a rare genetic disorder characterized by red, thickened patches of skin and problems with movement and coordination (ataxia).
Etymology
The term "Erythrokeratodermia" is derived from the Greek words "erythros" (red), "kerato" (horny), and "derma" (skin). "Ataxia" comes from the Greek word "ataxis" meaning "without order", referring to the lack of order or coordination.
Symptoms
The primary symptoms of Erythrokeratodermia with ataxia include erythema (redness of the skin) and keratoderma (thickening of the skin). These skin changes often occur in infancy or early childhood. Ataxia, or lack of muscle coordination, typically develops in late childhood or adolescence.
Causes
Erythrokeratodermia with ataxia is caused by mutations in the GJB3 gene, which provides instructions for making a protein that forms channels in the cell membrane, allowing potassium ions to pass between cells.
Diagnosis
Diagnosis of Erythrokeratodermia with ataxia is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Treatment
Treatment is directed toward the specific symptoms that are apparent in each individual. This may include the use of emollients or keratolytic agents for skin symptoms, and physical therapy or other supportive treatments for ataxia.
See also
External links
- Medical encyclopedia article on Erythrokeratodermia with ataxia
- Wikipedia's article - Erythrokeratodermia with ataxia
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