CHILD Syndrome Workup

Updated: Aug 20, 2019
  • Author: Amanda T Moon, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Laboratory Studies

Laboratory testing involves sterol analysis of plasma, tissues, or cultured cells by gas chromatography–mass spectometry, which shows elevated levels of C4-methylated and C4-carboxy sterol intermediates.

Plasma cholesterol is normal in patients with CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome.

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Imaging Studies

Radiographic examination of the head, trunk, and extremities is essential for detecting any skeletal abnormalities. Additionally, computed tomography scanning of the head and the trunk may reveal hypoplasia or aplasia of the brain and/or the viscera.

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Other Tests

Ultrasonography of the viscera, echocardiography, and full brain magnetic resonance imaging help identify internal anomalies associated with CHILD syndrome. [34] Definitive diagnosis can be made with genetic testing for mutations in the NSDHL gene by DNA sequence analysis.

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Procedures

A skin biopsy may be performed. Obtaining samples from both involved skin and uninvolved skin is necessary.

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Histologic Findings

The epidermis from involved skin shows marked acanthosis and papillomatosis with alternating orthokeratosis and parakeratosis. Patchy hypergranulosis and a superficial perivascular infiltrate are also observed. [35, 36]

A distinctive phenomenon of verruciform xanthoma, which is characterized by enlarged papillae filled with foamy histiocytes, has been reported when biopsy samples are obtained from body folds. [37, 38] Under electron microscopy, the parakeratotic corneocytes and basal cells contain lipid vacuoles and numerous intercellular vesicular structures. [39] Abnormal cementosomes with electron-dense bodies have also been reported. The papillary dermis is thickened and filled with histiocytes containing large lipid vacuoles. The fibroblasts are similarly filled with lamellated structures. [35, 40, 41]

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