Child syndrome Q87.-

Hereditary, X-linked dominant epidermal nevus syndrome with hemiplegic verrucous nevus (so-called lateralization pattern of a cutaneous mosaic), ipsilateral limb malformations and anomalies of internal organs. The acronym "CHILD" was introduced by Happle in 1980 and is an acronym for "congenital hemidysplasia with ichthyosiform nevus and limb defects".

X-linked dominant inheritance. The underlying genetic defect is due to mutations in the NSDHL gene, which is mapped to Xp28. This gene codes for the NAD(P)H steroid dehydrogenase-like protein, which is involved in the metabolism of cholesterol and is a lethal factor for male embryos. The syndrome is therefore almost exclusively observed in females. Affected mothers can only pass the syndrome on to their daughters (affected male embryos die in early pregnancy). Healthy sons are only born if the "healthy" X chromosome was inherited from the mother.

Skin: Variably extensive, sharply defined, reddened, ichthyosiform verrucous plaques with waxy, white-yellowish to brownish scaling. Sometimes the entire half of the body is affected with the exception of the face. Frequent onychodystrophy. A pronounced ptychotropy, a preferential infestation of the body folds, is detectable.

Skeletal system: aplasia/hypoplasia of the phalanges, shortening of the long tubular bones, possibly radiologically detectable spatter-like epiphyseal calcifications in infancy.

Internal organs: Cardiovascular, renal, pulmonary, endocrine anomalies possible (e.g. unilateral renal agenesis).

Skin symptoms: therapy with 0.05% Vit. A acid cream R256 or ointments containing 5-10% urea. Circumscribed foci can be surgically removed if necessary. Since this is a cosmetic therapy, the use of systemic retinoids (neotigasone) cannot be advised in children. Recently, therapeutic successes with topical simvastatin/cholesterol ointment have been described.

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