Milroy disease with predominant preputial involvement.

Area of Science:

• Pediatric Surgery
• Genetics
• Vascular Medicine

Background:

• Milroy disease is a rare genetic disorder causing primary lymphedema, usually affecting lower extremities.
• Congenital lymphedema presents at birth, stemming from lymphatic system malformations.

Observation:

• This report details a rare case of congenital primary lymphedema predominantly affecting the genitalia in a 4-year-old boy.
• The patient presented with significant penile lymphedema, a highly uncommon manifestation of Milroy disease.

Findings:

• The case underscores the variability in Milroy disease presentation, extending beyond typical lower limb involvement.
• Surgical intervention is considered when conservative management for severe lymphedema proves insufficient.

Implications:

• This case expands the understanding of Milroy disease's clinical spectrum, particularly in pediatric genital presentations.
• It emphasizes the need for tailored treatment strategies, including surgical options, for rare congenital lymphedema cases.