What evaluation and management are recommended for a patient born without nipples (congenital nipple aplasia, possibly isolated amastia or associated with a syndrome such as Poland syndrome)?

Evaluation and Management of Congenital Nipple Aplasia

Congenital absence of nipples (athelia) is a rare benign anatomical variant that requires systematic evaluation to identify associated syndromes—particularly Poland syndrome—followed by individualized reconstruction planning based on the presence of breast tissue, chest wall defects, and patient functional or cosmetic concerns.

Initial Clinical Assessment

Physical Examination Priorities

• Assess for Poland syndrome features: Look specifically for unilateral chest wall depression, absence or hypoplasia of pectoralis major/minor muscles, absence of anterior axillary fold, rib or costal cartilage defects (typically ribs 2-4 or 3-5), and ipsilateral hand abnormalities including brachysyndactyly 1, 2, 3
• Evaluate breast tissue presence: Determine whether complete amastia (absent breast tissue, nipple, and areola) or isolated athelia (absent nipple/areola with breast tissue present) exists 1, 4
• Document laterality: Unilateral versus bilateral involvement significantly impacts differential diagnosis and reconstruction approach 1, 2
• Screen for associated anomalies: Examine for skeletal abnormalities, genital examination findings, and dysmorphic features that may suggest syndromic associations 5

Diagnostic Workup

• Chest imaging: Obtain chest radiograph or CT to evaluate rib/costal cartilage defects, chest wall stability, and potential lung herniation in suspected Poland syndrome 2, 3
• Cardiac ultrasound: Screen for congenital heart defects, particularly if other syndromic features are present 5
• Genetic evaluation: Consider referral to medical genetics if multiple congenital anomalies, dysmorphic features, or family history suggest a broader syndrome 5
• Renal ultrasound: Indicated if features suggest Simpson-Golabi-Behmel syndrome (supernumerary nipples in that condition, but evaluate for genitourinary defects) or other overgrowth syndromes 5

Management Algorithm

Non-Surgical Management (Initial Approach)

• Reassurance and counseling: Isolated congenital bilateral athelia without other anomalies is a benign variant requiring no medical intervention unless functional problems or cosmetic concerns develop 6, 7
• Observation through childhood: The American Academy of Pediatrics does not list congenital nipple absence as an indication for surgical referral in infancy or early childhood 6, 7
• Psychosocial support: Address quality of life concerns, particularly as patients approach adolescence when body image awareness increases 4

Surgical Reconstruction Indications

Proceed with reconstruction when:

• Patient expresses desire for cosmetic correction after reaching appropriate maturity for shared decision-making 6, 7
• Functional breastfeeding concerns arise (though this is not applicable in complete amastia) 6
• Associated chest wall defects cause paradoxical chest movement or respiratory compromise 2, 3

Reconstruction Approach for Isolated Athelia

For patients with breast tissue present but absent nipple-areola complex:

• Nipple-areola reconstruction: Utilize skate flap or other local flap techniques for nipple reconstruction 4
• Timing: Defer until breast development is complete (typically post-puberty) to ensure appropriate positioning 4

Reconstruction Approach for Complete Amastia

Three-stage reconstruction protocol (based on contemporary evidence):

1. Stage 1 - Soft tissue augmentation: Transfer 200cc adipose tissue to increase skin thickness and create adequate soft tissue coverage before implant placement 4

2. Stage 2 - Breast mound creation (4 months after Stage 1): Insert breast implant or perform autologous tissue transfer using anterolateral thigh perforator flap, particularly when chest wall deformity or absent pectoralis muscles make implant positioning difficult 4, 8

3. Stage 3 - Nipple-areola complex reconstruction: Create NAC using skate flap or alternative local flap techniques 4

Poland Syndrome-Specific Considerations

When chest wall defects are present:

• Chest wall stabilization: For large anterior chest wall defects with absent ribs/cartilage, reconstruct with methyl methacrylate prosthesis to prevent paradoxical movement and provide individualized remodeling 3
• Muscle transfer: Consider latissimus dorsi island pedicle myocutaneous flap for simultaneous chest wall coverage and breast augmentation 2
• Single-stage versus staged approach: Contemporary evidence supports single-stage chest wall reconstruction combined with breast augmentation and muscle transfer over historical multiple-stage procedures 2

Critical Pitfalls to Avoid

• Do not dismiss as purely cosmetic in infancy: Failure to evaluate for Poland syndrome or other syndromes may miss associated cardiac, renal, or skeletal anomalies requiring surveillance 5, 2
• Do not perform early reconstruction: Premature surgical intervention before breast development completion leads to poor aesthetic outcomes and need for revision 4
• Do not use implants alone in Poland syndrome: Absent pectoralis muscles and chest wall deformities make implant positioning difficult; autologous tissue transfer provides superior outcomes 8
• Do not confuse with acquired nipple changes: New nipple inversion or changes in previously normal nipples require immediate malignancy evaluation, whereas congenital absence is benign 6, 7

Surveillance Recommendations

• No routine cancer screening: Congenital athelia/amastia does not increase breast cancer risk and requires no special surveillance beyond age-appropriate screening guidelines 6
• Monitor for syndrome-specific complications: If Poland syndrome or other syndrome diagnosed, follow appropriate surveillance protocols (e.g., renal ultrasound for Wilms tumor in overgrowth syndromes if applicable) 5