Verruciform xanthoma: a special epidermal nevus.

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked disorder.
• It presents with a spectrum of anomalies, including ichthyosiform erythroderma and limb malformations.

Observation:

• A 17-year-old female presented with a large right foot mass, knee contracture, and bilateral nail deformities.
• She had a history of erythematous, scaly skin lesions with sharp midline demarcation.
• Radiography revealed right leg hypoplasia and osteopenia, consistent with CHILD syndrome.

Findings:

• Microscopic examination showed psoriasiform epidermal hyperplasia, hyperkeratosis, and neutrophilic exocytosis.
• The dermis contained foamy macrophages, indicative of verruciform xanthoma, a characteristic finding in CHILD syndrome.

Implications:

• This case underscores the importance of recognizing the diverse clinical manifestations of CHILD syndrome.
• Early diagnosis and management are crucial for improving patient outcomes and quality of life.