Congenital ichtyosiform erythroderma

Congenital Ichthyosiform Erythroderma (CIE) is a rare genetic disorder that primarily affects the skin. It is one of the types of ichthyosis, a group of genetic skin disorders characterized by dry, thickened, scaly or flaky skin.

Symptoms

The symptoms of CIE are usually present at birth and may include redness of the skin (erythroderma), and the formation of large, plate-like scales. The skin may also be thickened (hyperkeratosis). Other symptoms may include hair loss (alopecia), abnormal or missing nails, and abnormalities of the sweat glands.

Causes

CIE is caused by mutations in several different genes. These genes are involved in the formation and function of the skin. The most common mutations are found in the ABCA12 gene, but mutations in other genes can also cause CIE. The disorder is inherited in an autosomal recessive manner.

Diagnosis

Diagnosis of CIE is based on the physical symptoms present at birth or shortly thereafter. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the disorder.

Treatment

There is currently no cure for CIE. Treatment is aimed at managing the symptoms and may include the use of moisturizers and keratolytic agents to help manage the scaling of the skin. In severe cases, retinoids may be used.

Prognosis

The prognosis for individuals with CIE varies. Some individuals may have mild symptoms and lead relatively normal lives, while others may have severe symptoms that significantly affect their quality of life.

See also

• Ichthyosis
• Genetic disorder
• ABCA12
• Autosomal recessive

NIH genetic and rare disease info

• NIH info on Congenital ichtyosiform erythroderma

Congenital ichtyosiform erythroderma is a rare disease.