1.What is Poland syndrome?
Poland syndrome is a congenital malformation, commonly found in boys, in which one side of the thoracic muscles is absent or abnormal at birth, often accompanied by abnormal development of the hand on the same side, manifesting as short fingers and syndactyly. The right side is often more common than the left. Poland syndrome was first described by Alfred Poland in 1841 and named by Dr. Patrick Clakson in 1962. He was a New Zealand-born British plastic surgeon who worked at Guy’s and Queen Mary’s Hospitals in London. He noted that three of his patients were suffering from hand deformities with ipsilateral chest dysplasia. Dr. Clarkson named the condition “Poland’s” syndrome in an article that later published his series of three clinical cases.
2. Clinical manifestations
(1) Chest
This muscle is located between the shoulder and the sternum in the middle of the chest, and sometimes there are other muscles in the chest, shoulder muscles or dysplasia. Sometimes the thorax may also be present with abnormalities, such as short ribs. Breasts and nipples are often abnormal, and armpit hair can sometimes be sparse or abnormally positioned. Abnormalities in the development of the chest rarely have an effect on the body.
(2) Hands
Most cases of Poland syndrome are associated with abnormal hand development, including short, small, thin fingers, and varying degrees of syndactyly, a condition known as short-fingered syndactyly. The radius and ulna of the forearm may also be present in short deformity. The hand function will be affected to different degrees.
(3) Other anomalies
In rare and severe cases, there may also be abnormalities of internal organs such as the lungs and kidneys, and the heart may sometimes be abnormally located on the right side (see below for a normal heart on the left side). Bilateral is relatively rare, and in bilateral cases, some investigators believe that it may be another congenital anomaly rather than a Polish syndrome.
Typical manifestations.
1. Hypoplasia or agenesis of the breast or nipple.
2. Defective or dysplastic pectoralis major muscle.
3, Rib cartilage defect or partial rib defect.
4.Short finger and finger deformity.
3.The incidence of Poland syndrome
According to different studies, the incidence of Poland syndrome is about 1-3 per 100,000, and the incidence in boys is twice as high as that in girls, but mild cases of Poland syndrome are often underdiagnosed because of the lack of obvious symptoms.
4. Causes of Poland syndrome
The exact cause of Poland syndrome is not well understood. Researchers have found that the development of Poland syndrome may be related to a disruption of blood flow to the fetus, which may occur in the sixth week of pregnancy when a major blood vessel is affected, which develops into the subclavian and vertebral arteries that innervate the chest and upper extremities. The degree to which the vessel is affected determines the severity of the malformation.
A very few cases of Poland syndrome due to genetic abnormalities have a slight genetic predisposition.
Most Poland syndrome is disseminated, occurs in families with no history of Poland syndrome, and is not hereditary. For rare cases, the malformation can be inherited through families, which may be through an autosomal dominant pattern of inheritance.
5 , Diagnosis
(1) Clinical examination: typical clinical manifestations can confirm the diagnosis
(2) Imaging examination: X-ray, CT, MRI examination can determine the abnormalities of chest muscles, bones and joints.
6.Treatment
(1) Reconstructive surgery: The purpose of reconstructive surgery is to restore and improve the structure of the affected side, mainly the reconstruction of the chest. For males, the common surgery can be performed after the age of 13. For females, it is necessary to wait until the development of the contralateral breast is completed before reconstructive surgery is performed.
(2) Chest wall repair: For children with rib defects, chest wall repair surgery needs to be done as early as possible. This can often be done with an autologous rib graft.
(3) Surgical treatment of the hand: including juxtaposition of the fingers or tiger opening can be done between the ages of half and two years. For some severe cases, finger reconstruction or lengthening may be considered.
7.Rehabilitation treatment
Post-surgical rehabilitation, including hand training for daily life, can enhance and improve muscle recovery and hand function.
8.Prognosis
With active and appropriate treatment, the overall outcome is good, and the recovery of hand function is good.