Patients with congenital breast abnormalities often seek advice for the first time at around the time of puberty. It is following the growth of the breast during puberty that these congenital abnormalities manifest themselves more clearly. Additionally, patients at this age are more aware of their bodies. Often they may have heard comments from peers when the breast defect is noticed at school and sports.
These abnormalities can be quite complex, thereby posing a technical challenge to the reconstructive surgeon. There is a preference for a correction at the earliest possible stage if feasible, before the patient's psychosocial problems arise. The aim is both an aesthetic (shape and symmetry with the other side) and functional (sensation, lactation) reconstruction, but in practice this can sometimes be difficult to achieve.
The most common congenital breast deformations are:
- Absence (aplasia) of the breast and / or nipple
- Supernumerary nipple and breast
- Poland Syndrome
Absence (aplasia) of the breast and / or nipple
This is a rare condition that affects the mammary gland and nipple during the embryonic period. Before puberty, the condition manifests simply as an absence of one or both nipples. During and after puberty, the condition is more obvious since the affected breast(s) does not develop. The formation of the mammary gland and nipple are interrelated: a normal breast without a nipple does not exist. A small nipple with little (hypoplastic) or no breast tissue underneath does exist. This can be a part of a syndrome.
The treatment of this condition follows the same principles as those applied to breast reconstruction. The situation is similar to that which follows a full mastectomy in women who have breast cancer. The reader may wish to see further details in the section on breast reconstruction.
|Fig. 1: Complete absence of the nipple and breast on the left side.||Fig. 2: Absence of the breast on the left side but the nipple is present.|
Supernumerary nipple and breast
In this condition, one or more nipples are present in an unusual location. This is relatively common, affecting up to 5% of the general population. The extra nipple is always present on the natural nipple or milk line, which is slightly curved from the armpit to the groin. The nipple may be a variable size, but is usually small and looks like a birthmark. This is an extra nipple but is not recognised as such by most people. Larger supernumerary nipples usually occur in the inframammary fold and may be associated with the development of an extra (supernumerary) breast. This is only visible during or after puberty.
Extra nipples or breasts may occur along the nipple line because breast tissue formed during the embryonic period may remain at several places along this line. It often does not cause functional or cosmetic problems. Treatment is surgical excision and breast tissue below the nipple should be removed. The scars are generally minimal.
|Fig. 1: bilateral supernumerary nipples.||Fig. 2: supernumerary nipple in the crease under the left breast.|
|Fig. 3: supernumerary breast in the crease under the left breast.|
Poland's syndrome was first (partially) described by Alfred Poland in 1841. Features of this syndrome are absence of the lower part of the pectoralis major, hypo-or aplasia of the breast and nipple, reduced fat in the armpit, hand deformities and abnormalities of the ribs. If present, the nipple is usually positioned too high.
Additionally, other muscles of the shoulder girdle are hypoplastic and a large part of the chest wall may be missing. This syndrome occurs in 1 in 30,000 live births and usually affects the right side. The male / female ratio is 3:1. A plastic surgeon tends to see more women with this syndrome, because of the associated breast abnormalities.
The cause of Poland syndrome condition is not well known. It is believed that during the 6th week of pregnancy, the artery beneath the collar bone (subclavian artery) is underdeveloped, affecting the growth of the structures in the chest and arm on the affected side.
Before surgical correction, it should be noted what anatomical structures are affected and what functional and aesthetic problems there are. In boys, if only the muscle is affected, a muscle from the back can be used to reconstruct the breast muscle. Another option is to use a custom made prosthesis to fill the cavity and thus camouflage the problem.
In girls, correction is more difficult. Usually, the breast on the affected side is hardly developed. At the beginning of puberty one may place a tissue expander underneath the skin to stretch it to match the other side. If sufficient subcutaneous tissue is present, the back muscles may be used together with this tissue expander.
When the breast on the other side has completely developed, at the end of puberty, the expander can be replaced by a permanent implant. In adulthood, one might consider reconstruction with autologous tissue (see the chapter on breast reconstruction). It is however, usually very difficult to achieve perfect symmetry with the normal side.
Abnormalities of the chest wall may be corrected with a custom-made prosthesis to fill the defect, although not all chest abnormalities have to be corrected .
Hand abnormalities need to be addressed at an early age (as young as 6 months) so that the child is able to develop normal dexterity.
Figure: (above) Young girl with a complex case of Poland syndrome on the right side: absence of breast and nipple, absence of pectoralis major and minor muscle and depression of the rib cage. (below) Correction by tissue expansion, lipofilling and a permanent anatomical breast implant