Folded skin associated with underlying nevus lipomatosus

Area of Science:

• Medical Genetics
• Dermatology
• Developmental Pediatrics

Background:

• Nevus lipomatosus is a congenital lipomatous nevus characterized by the presence of mature adipose tissue within the dermis.
• Marked skin folding, also known as cutis gyrata or cerebriform thickening, is a rare cutaneous finding.
• The association between nevus lipomatosus and other congenital anomalies is not well-established.

Observation:

• A female infant presented with intellectual disability, bilateral foot abnormalities, and hemiplegia.
• A significant finding was the presence of a nevus lipomatosus with marked folding of the skin.
• The infant also exhibited other congenital defects, the nature of which is detailed in the full report.

Findings:

• This case represents the second documented instance of nevus lipomatosus with marked skin folding.
• Crucially, this case demonstrated a novel association between this cutaneous disorder and multiple congenital defects.
• Genetic analysis revealed previously unreported chromosomal abnormalities in the affected infant.

Implications:

• This case expands the understanding of the phenotypic spectrum associated with nevus lipomatosus.
• The identification of chromosomal abnormalities suggests a potential genetic etiology for the observed complex of symptoms.
• Further research is warranted to elucidate the genetic underpinnings and recurrence risks for similar presentations.