Bilateral breast enlargement in a male toddler: an unusual cause

Area of Science:

• Pediatric Endocrinology
• Clinical Genetics
• Dermatology

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of tumors in the nervous system.
• Gynecomastia, or breast enlargement in males, can have various underlying causes, requiring thorough investigation.
• Distinguishing true gynecomastia from pseudogynecomastia is crucial for accurate diagnosis and management.

Observation:

• A two-and-a-half-year-old boy presented with asymmetrical bilateral breast enlargement noted since infancy.
• Physical examination revealed features consistent with neurofibromatosis type 1 (NF1).
• Endocrinological assessments were conducted and yielded normal results.

Findings:

• Breast biopsy via Trucut procedure showed an overgrowth of fibrocollagenous and adipose tissue.
• There was no evidence of hyperplasia in the breast parenchyma.
• The findings supported a diagnosis of pseudogynecomastia in the context of NF1.

Implications:

• This case highlights the importance of considering NF1 in the differential diagnosis of pediatric breast enlargement.
• Pseudogynecomastia associated with NF1 may result from localized tissue overgrowth rather than hormonal imbalances.
• Further research into the specific mechanisms of NF1-related pseudogynecomastia could inform clinical management strategies.