Other names: congenital hemidysplasia with ichthyosiform erythroderma and limb defects
OMIM:308050
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
