Child Syndrome

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Clinical CHILD Syndrome

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Synonym

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Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; Unilateral congenital ichthyosiform erythroderma

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Inheritance

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X linked dominant; NSDHL gene on Xq28

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Prenatal

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Ultrasound detection of limb/organ defects

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Incidence

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Rare; lethal in males

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Age at Presentation

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Birth to I month old

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Pathogenesis

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Mutations in the NSDHL gene encoding for 3P hydroxysteroid dehydrogenase are most common; EBP gene defect (i.e. Conradi's) has been described; both enzymes involved in cholesterol biosynthesis

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Clinical

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Skin
Unilateral ichthyosiform erythroderma with sharp midline cutoff involving trunk
and limbs; ± linear or segmental involvement on contralateral side; lesions tend to
improve with age but may persist in skin folds (ptychotropism)

Hair
lpsilateral alopecia

Nails
Severe dystrophy

Musculoskeletal
Hypoplasia to agenesis of limbs ipsilateral to ichthyosis; other ipsilateral bones may
be involved; ± stippled epiphyses

Internal Organs
Hypoplasia to agenesis of organs below ichthyosis variety of organs reported in¬
cluding CNS, cardiovascular, renal, and genitourinary involvement

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D/Dx

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Conradi Hunermann syndrome
inflammatory linear verrucous epidermal nevus

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Lab

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Computed tomography/magnetic resonance imaging (CT/MRI) scan of ipsilateral side

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Management

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Referral to dermatologist topical therapy
Referral to orthopedist
Referral to organ specific subspecialist

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Prognosis

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Dependent on which organs are affected can range from normal life span to incompatible with life