Proteus syndrome associated with liver involvement: case report.

Area of Science:

• Medical Genetics
• Dermatology
• Pediatric Neurology

Background:

• Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth.
• Key features include epidermal nevi and asymmetric limb and skeletal malformations.
• Previous literature has not extensively documented hepatic involvement.

Observation:

• A patient presented with a complex phenotype including epidermal nevus.
• The patient exhibited right-sided asymmetric overgrowth affecting extremities, pelvis, and vertebrae.
• Hemimegalencephaly was also noted as a significant neurological finding.

Findings:

• The patient displayed a constellation of Proteus syndrome features.
• A novel observation was significant hepatomegaly (liver enlargement).
• This hepatic manifestation is not previously described in the established literature for Proteus syndrome.

Implications:

• This case expands the known clinical spectrum of Proteus syndrome.
• The presence of hepatomegaly suggests a potential new diagnostic or prognostic marker.
• Further research is warranted to understand the mechanism and prevalence of liver involvement in Proteus syndrome.