Child syndrome Q87.-

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

CHILD-Naevus; Congenital hemidysplasia with Ichthyosiform Erythroderma and Limb Defects; congenital unilateral ichthyosiform erythroderma with ipsilateral hypoplasia of upper and lower limbs; psoriasis and central nervous system anomalies; syndrome of unilateral ectromelia; Syndromes of unilateral ectromelia psoriasis and central nervous system anomalies

History
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Falek, 1968

Definition
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Hereditary, X-linked epidermal nevus syndrome with hemiplegic erythroderma (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".

Etiopathogenesis
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X-linked dominant hereditary. The underlying genetic defect are mutations of 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. Thus the syndrome is almost exclusively observed in women. 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 is inherited from the mother.

Manifestation
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From birth or appearance in early infancy.

Localization
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All symptoms are restricted to one half of the body, rarely minimal changes on the opposite side. The right side is preferentially affected (right: left = 14:6).

Clinical features
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  • Skin: Varying extensive, sharply defined, reddened, ichthyosiform areas with waxy, white-yellowish scales. In some cases, the entire half of the body except the face is affected (ichthyosiform erythroderma). Often onychodystrophy. A pronounced ptychotropia, a preferential infestation of the body folds, can be detected.
  • Skeletal system: aplasia/hypoplasia of the phalanges, shortening of the long tubular bones, possibly radiologically detectable splatter-like epiphyseal calcifications in infancy.
  • Internal organs: cardiovascular, renal, pulmonary, endocrine abnormalities possible (e.g. unilateral renal agenesia).

Histology
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Acanthosis, hyperkeratosis, focal acral parakeratosis.

Differential diagnosis
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Therapy
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Skin symptoms: therapy trial with 0.05% Vit. A acid cream R256 or 5-10% urea-containing ointments. Circumscribed foci can be removed surgically if necessary. As this is a cosmetic therapy, the use of systemic retinoids (neotigason) in children cannot be recommended.

Progression/forecast
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Often spontaneous regression of the symptoms in the course of life. However, usually not completely. Inflammatory residuals in the large body folds (groin, armpits).

Literature
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  1. Caldas H et al (2005) Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H steroid dehydrogenase-like (NSDHL) enzymes. Mol Genet Metab 84: 48-60
  2. Falek A, Heath CW Jr. Ebbin AJ, McLean WR (1968) Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome. J Pediat 73: 910-913
  3. Gleason TR et al (2004)Perceived vulnerability: a comparison of parents and children. J Child Health Care 8: 279-287
  4. Happle R, Koch R, Renz W (1980) The CHILD syndrome: congenital hemidysplasia and ichthyosiform erythroderma and limb defects. Eur J Pediatr 134: 27-33
  5. Happle R, Karlic D, Steijeln PM (1990) CHILD syndrome in mother and daughter. Dermatologist 41: 105-108
  6. Happle R et al (1996) CHILD syndrome in a boy. At J Med Genet 62: 192-194
  7. Hebert AA, Esterly N et al (1987) The CHILD syndromes. Arch Dermatol 123: 503-509
  8. Contras SB, Kataria S, Eaton AP et al (1975) Congenital unilateral ichthyosiform erythroderma with ipsilateral hypoplasia upper and lower limbs. Birth Def 11: 333-334
  9. Porter FD (2003) Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr 15: 607-613
  10. Shear CS, Nyhan WI, Frost P et al (1971) Syndromes of unilateral ectromelia, psoriasis, and central nervous system anomalies. Birth Def Orig Art Ser VII: 197-203

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Last updated on: 29.10.2020