CHILD Syndrome

Other names: congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Inheritance: X-linked dominant

Incidence: very rare

Key findings: The descriptive name of the disease identifies the key findings. Poor development of many organs is a constant feature and usually occurs on same side of the body as the ichthyosiform erythroderma.

skin: distinctively patterned, red patches usually stop at the midline and have greasy scale; half of the body can be involved or segmental patches can be limited primarily to one side
hair: alopecia can occur on same side as ichthyosis
nails: various nail abnormalities can occur

Associated findings:

musculoskeletal: poorly developed bones and muscles in one or more limbs (common)
internal organs: poor development of brain, heart, kidneys, and endocrine glands (rare)

Age at first appearance: birth or within first several weeks of life

Long-term course: depends on severity of internal organ involvement; skin usually remains unchanged through life, but rarely improves

Diagnostic tests: analysis of cellular DNA

Abnormal Gene: either cholesterol isomerase or cholesterol dehydrogenase

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