Athelia: Definition and Overview

1. Definition

Athelia is the congenital or acquired absence of one or both nipples. It is a rare condition often associated with genetic syndromes or developmental abnormalities.

2. Causes and Associations

• Congenital (Present at Birth)
  • Poland Syndrome – Typically unilateral athelia, associated with underdeveloped chest muscles.
  • Ectodermal Dysplasia – A group of disorders affecting skin, hair, nails, and glands, often linked to bilateral athelia.
  • Progeria – A genetic disorder causing premature aging, sometimes accompanied by athelia.
• Acquired (Developed Later in Life)
  • Surgical Removal – Due to mastectomy or trauma.
  • Severe Burns or Infections – Leading to nipple destruction.

3. Related Conditions

• Amastia – Absence of both breast tissue and nipples.
• Amazia – Absence of breast tissue while the nipple is present.
• Poland Syndrome – A rare condition involving underdeveloped chest muscles and sometimes missing nipples.

4. Diagnosis and Management

• Diagnosis – Physical examination, genetic testing, imaging (if related to syndromes).
• Treatment Options
  • Reconstructive Surgery – Nipple reconstruction or tattooing.
  • Genetic Counseling – If associated with syndromes.