CHILD Syndrome

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. Other abnormalities may be present, as well.

Causes of CHILD Syndrome #

• CHILD syndrome is a hereditary disorder transmitted as an X-linked dominant trait.

• The faulty gene is on the long arm of the X chromosome (Xq28).

• The protein/enzyme product coded by the gene has been identified as NSDHL and governs an essential step in the biosynthesis of cholesterol.

• Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.

• Human body cells normally have 46 chromosomes.

• Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y.

• Males have one X and one Y chromosome and females have two X chromosomes.

• Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further sub-divided into many bands that are numbered.

• For example, chromosome Xq28 refers to band 28 on the long arm of the X-chromosome.

• The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Symptoms of CHILD Syndrome #

• CHILD syndrome is usually present at birth. It may first become apparent at some point during the first month of life.

• The skin is usually dry, itchy, red and scaly (ichthyosiform erythroderma) on one side of the body, although minor skin involvement in the shape of lines or segments may occur on the opposite side of the body.

• Bands of normal skin may be found on the affected side as well. Patients with CHILD syndrome may be bald on one side of the head and have clawlike nails.

• Limb defects usually occur on the same side of the body as the major skin symptoms.

• These defects may range from underdevelopment of fingers and toes to complete absence of a limb.

• Some of the types of skeletal defects that might occur include abnormal ribs, anomalies of the shoulder blades (scapula), webbing of the skin between joints, and absence of muscles of the breast (pectoral).

• Heart defects sometimes associated with this syndrome include defects in the walls between auricles and/or ventricles, as well as complex heart disease in which less than adequate amounts of oxygen get to the organ (cyanosis).

Diagnosis of CHILD Syndrome #

A thorough physical exam may be sufficient for the diagnosis.

Treatment of CHILD Syndrome #

• Skin (dermatologic) symptoms of CHILD syndrome are treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly.

• This can be especially effective after bathing while the skin is still moist.

• Salicylic acid gel is another particularly effective ointment.

• The skin should be covered at night with an airtight, waterproof dressing when this ointment is used.

• Lactate lotion can also be an effective treatment for the skin symptoms of this disorder.

• Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate can be effective against dermatologic symptoms of CHILD syndrome, but can cause toxic effects on the bones in some cases.

• A synthetic derivative of Vitamin A, isotretinoin (accutane), when taken by pregnant women, can cause severe birth defects to the fetus.

• These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis.

• Other treatment is symptomatic and supportive.

• Genetic counseling may be helpful to families of patients with CHILD syndrome.