Kabuki syndrome: a new case associated with Becker nevus

Area of Science:

• Genetics and rare diseases
• Dermatology
• Pediatrics

Background:

• Kabuki syndrome is a rare genetic disorder characterized by specific facial features, skeletal anomalies, developmental delay, and short stature.
• First described in 1981, diagnostic criteria were established in 1988, including peculiar facies, skeletal and dermatoglyphic anomalies, and intellectual disability.

Observation:

• A 6-year-old boy with Kabuki syndrome presented with typical features of the disorder.
• This patient also exhibited a Becker nevus, a finding not previously documented in association with Kabuki syndrome.

Findings:

• The case expands the known phenotypic spectrum of Kabuki syndrome.
• Dermoscopy was utilized to examine dermatoglyphic alterations, suggesting its utility in assessing these anomalies.

Implications:

• This case broadens the understanding of Kabuki syndrome's associated conditions.
• Further research may elucidate the relationship between Kabuki syndrome and dermatological findings like Becker nevus.
• Dermoscopy may prove valuable in the comprehensive evaluation of patients with Kabuki syndrome.