Abstract
In 1903, Otto Sachs published the first case with xanthoma-like naevus. The acronym CHILD stands for congenital hemidysplasia, ichthyosiform erythroderma and limb defects, akin to other cases in the literature coined as ichthyosiform erythroderma, erythrokeratoderma, epidermal naevus, ectromelia, inflammatory epidermal naevus and limb and skin deformities with congenital heart disease. The condition predominates the female gender (lethal male trait) and right hemibody for obscure reasons. Mutations occur in the NSDHL gene at Xq28 locus, encoding for NAD(P)-dependent 3-β-hydroxysterol dehydrogenase found in the endoplasmic reticulum and involved in cholesterol biosynthesis. Symptomatic treatment varies according to the severity of phenotypic expression.
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Panteliadis, C.P. (2022). Child Syndrome. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_34
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DOI: https://doi.org/10.1007/978-3-030-87893-1_34
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