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Congenital Ichthyosis Erythroderma
Tuesday, 16 November 2004
Tuesday, 16 November 2004

What

Congenital Ichthyosis erythroderma (CIE) is a rare and hereditary skin condition characterized by dry, thick, fish-like scaling of the skin. “Ichthy” means fish in Greek. There are two types of CIE: 1. blistering; also called bullous or Epidermolytic Hyperkeratosis (EHK) and 2. non-bullous

Who

CIE is a rare disease. It is estimated to occur in 1 out of 300,000 children. Boys and girls of all races and ethnicities are equally affected.

Signs and Symptoms

Children with CIE develop redness, blistering and peeling of the skin beginning at birth or by 6 months of age. Fluid-filled blisters can become infected and cause foul skin odor. Newborns are at risk for dehydration due to water loss through the skin. Also, a weakened skin barrier allows bacteria to enter through the skin into the blood. Newborns, who have weak immune systems, are at risk for more severe infections. A few days after the initial blistering, scaling develops. Blisters may continue to occur at sites of injury, but usually resolve by the age of 8 years. The scales are commonly small, thick, hard, and wart-like. Scaling can be generalized, affecting the entire body, or localized to a specific area, such as around the joints. In some children, CIE causes the skin to thicken and become inflexible and tight, decreasing the child’s ability to move his joints, especially the fingers. Children with a genetic change in the keratin 1 gene have thickened skin (hyperkeratosis) on the palms and soles, whereas those with keratin 10 genetic changes have normal palms and soles. Hyperkeratosis can cause a strong odor. Painful cracking of the thickened skin in these areas can also occur and lead to infection.

Possible Causes

CIE is caused by mutations in the genes for keratin 1 on chromosome 12 and keratin 10 on chromosome 17. Keratin is important in skin structure. When the keratin genes are changed there is blistering and increased growth of the skin lining. This results in the blistering and scaling of the skin which is seen in CIE. CIE is not caused by infection, so it is not contagious. It also cannot be prevented. CIE is an autosomal dominant disorder, an inherited genetic condition where only one gene with a change (mutation) is necessary to cause the disorder. When one parent has CIE, there is a 50% chance that each of the children will also have this disease. A family history of CIE is usually often found. However, new spontaneous mutations in the gene responsible for this disorder are found in up to 50% of cases.

Diagnosis

The diagnosis of CIE is suggested by the skin findings that are usually present at birth or by the first birthday. A small piece of skin can be taken by a skin biopsy and studied to help in the diagnosis of CIE, differentiating it from other causes of ichthyosis. The family history, if other affected family members are known, can also help make the diagnosis.

Treatment

The baby born with CIE should be transferred to a neonatal intensive care unit. There, the baby will be placed in a high-humidity incubator to prevent dehydration. Close monitoring for possible skin infection is important. Meticulous skin care in consultation with a dermatologist (skin doctor) will likely be started. There is no cure for CIE. Treatment aims to keep the skin well-moisturized and prevent infection and skin tightening. Skin moisturizers are crucial and should be applied daily after bathing while the skin is still wet. There are many medications that can help with the management of this disorder. A special class of skin care products called alpha-hydroxy acids can help decrease the thickness of the skin. Topical salicylic acid can also help remove the scaling. Topical retinoic acids can decrease scaling as well. Oral retinoids are reserved for severe cases because they can have serious side effects. Topical antibacterial ointments are useful to prevent and treat skin infections and control skin odor.

Prognosis

CIE is a life-long condition but symptoms tend to improve after puberty. People with CIE have normal life spans and live happy and productive lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Foundation for Ichthyosis & Related Skin Types, Inc. (F.I.R.S.T.)
Provides education and support networks for families.

Ichthyosis Information
Contains children’s chat rooms and education for families.

National Registry of Ichthyosis and Related Disorders
A national registry sharing information about ongoing research projects.

Google Search for Congenital Ichthyosis Erythroderma

References and Sources

www.emedicine.com/oph/topic687.htm www.emedicine.com/derm/topic590.htm www.wmalattierare.pediatria.unipd.it/pubblicaMR/MR_FRAME_ING.ASP?MR=180 www.icomm.ca/geneinfo/bullous.htm www.dermnetnz.org/scaly/ichthyosis.html www.fpnotebook.com/DER35.htm