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Another CHILD syndrome with xanthomatous pattern.

E Zamora-Martinez1, L Martin-Moreno, A Barat-Cascante

  • 1Department of Dermatology, Fundación Jiménez Díaz, Madrid, Spain.

Dermatologica
|January 1, 1990
PubMed
Summary
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This study details a rare case of CHILD syndrome presenting with verruciform xanthoma in an infant. The findings highlight early xanthomatous transformation in congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Area of Science:

  • Dermatology
  • Pediatric Pathology
  • Clinical Genetics

Background:

  • CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is a rare genetic disorder.
  • Epidermal nevi are benign congenital skin growths.
  • Verruciform xanthoma is a rare oral or cutaneous lesion.

Observation:

  • A patient presented with features suggestive of CHILD syndrome, including epidermal nevus with verruciform xanthoma lesions and congenital anomalies.
  • Histological examination of the lesions revealed verrucous characteristics with acanthosis, hyperkeratosis, parakeratosis, and a dermal infiltrate of xanthomatous cells.
  • This represents a unique presentation of verruciform xanthoma within an epidermal nevus in the context of CHILD syndrome.

Findings:

  • The case is notable for the early detection of xanthomatous transformation in biopsies taken from an infant.

Related Experiment Videos

  • This is the first reported instance of verruciform xanthoma within an epidermal nevus in a CHILD syndrome patient diagnosed in infancy.
  • The histological findings confirm the presence of xanthomatous cells within the dermal papillae of the verruciform xanthoma.

    • Implications:

    • This case expands the known clinical spectrum of CHILD syndrome.
    • Understanding the early xanthomatous changes in CHILD syndrome may inform future diagnostic and management strategies.
    • Further research into the pathogenesis of verruciform xanthoma in genetic disorders is warranted.