Athelia is a very rare congenital condition in which the patient’s breast tissue is present, but the nipple or nipples themselves are missing. When one or both nipples are missing, other abnormalities often appear because athelia is a symptom of an underlying syndrome. This symptom, which appears in both women and men, is often accompanied by other symptoms when an underlying disease is present. The absent nipples themselves usually do not cause any other health problems. Reconstructive surgery and nipple tattoos are available to return the patient to a normal appearance.

• Conditions and missing nipple or nipples

• Ectodermal dysplasias
• Poland syndrome
• Other syndromes

• Medication and absent nipples on breast
• Symptoms
• Treatment of athelia

Conditions and missing nipple or nipples

Ectodermal dysplasias

The ectoderm is the outermost layer in early embryonic development. Ectodermal dysplasias are a group of syndromes that affect the hair, skin, nails, teeth, sweat glands and sometimes other body parts. These are caused by genetic changes (mutations). The clinical picture of a form of ectodermal dysplasia is variable and consists of, for example:

• breathing problems
• dry eyes
• thin hair
• thin nails, cracked nails, brittle nails or other nail abnormalities
• a cleft lip or palate (cleft)
• an unusual skin color
• an inability to sweat (anhidrosis) or difficulty sweating (hypohidrosis)
• poor or absent breast development
• missing or misshapen teeth
• missing or underdeveloped fingers and/or toes
• vision problems
• problems with hearing (hearing loss)

Poland syndrome

Athelie is associated with Poland syndrome, a condition that affects approximately one in twenty thousand newborns. The exact cause of the syndrome is not known as of October 2020, but Poland syndrome is believed to be the result of a problem with blood flow in the uterus during the baby’s sixth week of development. The disease affects the arteries that supply blood to the growing baby’s chest. Due to a lack of blood, the chest is unable to develop properly. Occasionally, Poland syndrome is the result of a genetic mutation (alteration) that is also hereditary. With the condition, a patient presents with missing or underdeveloped muscles on one side of the body. This causes chest abnormalities, such as a missing part of the pectoralis major muscle. The following possible deviations also occur:

• athelie
• limited subcutaneous (under the skin) fat
• sparse or absent armpit hair
• short bones in the forearm
• limb abnormalities (such as fused fingers and/or toes and fingers and/or toes that are too short)
• missing or underdeveloped breast (amastia) and nipple (athelie) on one side of the body
• missing or underdeveloped ribs on one side of the body
• nipple abnormalities

The patient receives supportive treatment with corrective surgery for the existing abnormalities.

Other syndromes

Other causes of athelia include:

• the Ablepharon-Macrostomy Syndrome (AMS: abnormalities of the head, genitals and fingers)
• the Al-Awadi-Rass-Rothschild syndrome (poorly formed bones)
• the Finlay-Marks syndrome
• the scalp-ear-nipple syndrome (a hairless spot on the scalp, underdeveloped ears and missing nipples or breasts on both sides)
• progeria syndrome (accelerated physical aging)
• Yunis Varon syndrome (symptoms on the face, chest and other parts of the body)

Medication and absent nipples on breast

Furthermore, the absence of the nipple or nipples occurs when a pregnant woman takes the drug Carbimazole for the treatment of thyrotoxicosis (excessive amount of thyroid hormones in the blood). A baby is then born with one or more nipple abnormalities, facial abnormalities, esophageal abnormalities, growth retardation, delayed psychomotor development and/or other abnormalities.

Symptoms

The presentation of the congenital condition athelia is variable, depending on the underlying condition. In most patients, both the nipple and the areola (areola: the colored circle around the nipple) are missing. The nipple is missing on one or both sides of the breast. Athelie does not cause any complications. It is just not possible to breastfeed with a missing nipple. However, it is possible that other symptoms of the underlying disease can lead to problems. Poland syndrome sometimes also affects the lungs, kidneys and other organs.

Treatment of athelia

In principle, no medical treatment is required if nipples are absent. Reconstructive surgery is possible if the patient misses the entire breast. For this purpose, the surgeon uses tissue from the abdomen, buttocks or back. The doctor then creates the nipple and areola. It is also possible to have an areola shape tattooed on the skin. Some patients do experience psychological problems when one or both nipples are absent. A referral to a psychotherapist is recommended for these patients.

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• Nipple Abnormalities: Types of abnormal nipples in women