Cutaneous syndactyly

Related Terms

Absence of pectoralis muscle, axillary hair deficiency, breast aplasia, breast hypoplasia, cutaneous syndactyly, nipple aplasia, nipple hypoplasia, Poland sequence, Poland syndactyly, Poland syndrome, Poland's syndrome, rib cage abnormalities, short fingers, short forearm, short upper arm, subcutaneous fat deficiency, symbrachydactyly, syndactyly, symphalangism, pectoralis, upper extremity anomalies.

Background

Poland anomaly is an uncommon condition that is present at birth. People with this disorder have a series of malformations on one side of their body, which may include a defect of the pectoralis (chest) muscle and webbing of the fingers.
The syndrome is named for Alfred Poland, the doctor that first diagnosed the disorder in London in 1841. It can also be called Poland's syndrome, Poland syndrome, Poland sequence, or Poland syndactyly.
The cause of Poland anomaly is uncertain. The syndrome occurs randomly and is usually not inherited. It is believed to be caused by limited blood circulation in one of the arteries in the chest before birth. The right side of the body is two to three times more likely to be affected than the left side. Poland anomaly is two to three times more common in boys than girls. The reasons for these differences are not known.
The severity of Poland's Syndrome differs from person to person and it is often not diagnosed or reported, which makes the exact incidence difficult to determine. Current estimates are between one in 10,000 and one in 100,000 births.
Symptoms may vary from person to person, although the end of the main chest muscle that normally attaches to the breastbone is always missing. On the same side of the body, nearby chest muscles and axillary (armpit) hair may also be missing. In girls, the breast on that side is also usually absent. The fingers show webbing and tend to be short on the affected side. Children with Poland anomaly are usually otherwise normal. Intelligence is not impaired in Poland syndrome. The only known treatment for Poland anomaly is reconstructive surgery.

Signs and symptoms

General: Symptoms may vary from patient to patient. However, the end of the main chest muscle that normally attaches to the breastbone is always absent.
Common symptoms: Chest deformity and breast asymmetry are usually present, with only one side of the body being affected. The right side of the body is more likely to be affected than the left. The rib cage may be deformed and ribs may be missing. The upper arm, forearm, and fingers may be shortened, which is called brachysymphalangism. Fingers may be missing, misshapen, or fused.
The skin near the affected areas is usually very thin. There may also be a local deficiency of fat under the skin and missing axillary (armpit) hair. On the affected side, the nipple is often smaller and higher than normal in both males and females. In females, the breast tends to be underdeveloped (breast hypoplasia). Lung problems and abnormal shoulder blade formation may also occur.
Other: Less common symptoms include digestive problems, the heart not being centered, diaphragm defects, liver abnormalities, maternal diabetes, underdeveloped kidneys, protrusion of brain tissue, smaller circumference of the head, and abnormally shaped vertebrae or bones of the spine. Poland anomaly has been associated with an increased risk of developing leukemia or non-Hodgkin lymphoma.

Diagnosis

General: Due to the usually mild symptoms of Poland anomaly, patients may not be diagnosed until they require cosmetic or reconstructive surgery.
Blood tests: A blood test and examination of the lymph nodes should be performed to test for associated leukemia and non-Hodgkin lymphoma.
Imaging: A chest X-ray can determine rib abnormalities or diaphragm problems. Chest wall abnormalities may require a computed tomography (CT) scan, which uses X-rays to make detailed images of structures inside the body.

Complications

Some cases of Poland anomaly have been associated with leukemia and cancer. An oncologist should be consulted following diagnosis.
Severely malformed fingers and arms may cause cosmetic problems. Kidney problems may occur, resulting in kidney failure. Scoliosis (curved spine) may result from abnormally formed vertebrae (bones of the spine). Premature ovarian failure has been observed in rare cases.

Treatment

General: The only known treatment for Poland anomaly is reconstructive surgery. Due to varying symptoms, an individualized treatment plan is necessary to achieve complete rehabilitation. The patient's age and gender will determine the appropriate surgical approach. Poland anomaly patients often also develop leukemia or non-Hodgkin's lymphoma. Treatment for this disease includes radiation therapy and bone marrow transplant.
Reconstructive surgery: Chest deformities, including a missing breast, are often treated with tissue expanders. Patients must be old enough to be able to tolerate tissue expanders before they are used. Abnormal breast development may influence psychological development in teenagers. Each chest wall reconstruction requires an individualized approach in terms of timing and type of repair. The repair should be done in two stages in children, because the child is growing, and in a single stage in adults. Overall, excellent results are usually obtained.
Females: Breast reconstructive surgery in females should not be performed in patients that are younger than 12 years old because asymmetry may result with continued growth of the breasts. Multiple surgeries may then be necessary. During adolescence, a tissue expander can be placed under the skin of the affected side. This expander can be inflated at intervals to match the development of the unaffected breast to prepare for silicon gel implants later. Following breast implantation, the latissimus dorsi muscle from the back may be grafted over the implant. Artificial cartilage may be implanted in the chest to help give it a more normal look. Long-term symmetry may be optimized by placing an implant in the unaffected breast as well. Some women may additionally require nipple reconstruction and reduction of the normally developed breast.
Males: In males, the chest deformity can be reconstructed when the patient is at least 13 years of age. When rib abnormalities are mild, the latissimus dorsi muscle from the back may be transplanted into the chest. Artificial cartilage may be implanted to help give the chest a more normal look. If present, rib abnormalities should be treated first, which may require bone grafting.

Integrative therapies

Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Poland anomaly.

Prevention

Currently, preventive methods for Poland anomaly are unknown. It is possible that Poland anomaly may be detected in a developing fetus through a prenatal ultrasound.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

Colombani PM. Recurrent chest wall anomalies. Semin Pediatr Surg. 2003 May;12(2):94-9.
Derman O, Gold MA. Poland's syndrome and premature ovarian failure. J Pediatr Adolesc Gynecol. 2004 Dec;17(6):389-92.
Ferraro GA, Perrotta A, Rossano F, et al. Poland syndrome: description of an atypical variant. Aesthetic Plast Surg. 2005 Jan-Feb;29(1):32-3.
Fokin AA, Robicsek F. Poland's syndrome revisited. Ann Thorac Surg. 2002 Dec;74(6):2218-25.
Freitas Rda S, o Tolazzi AR, Martins VD, et al. Poland's syndrome: different clinical presentations and surgical reconstructions in 18 cases. Aesthetic Plast Surg. 2007 Mar-Apr;31(2):140-6.
Natural Standard: The Authority on Integrative Medicine. .
NORD. National Organization for Rare Disorders. .
Paladini D, D'Armiento MR, Martinelli P. Prenatal ultrasound diagnosis of poland syndrome. Obstet Gynecol. 2004 Nov;104(5 Pt 2):1156-9.
Poland's Syndrome website. .

Causes

The cause of Poland anomaly is uncertain. However, it is thought that many of the symptoms described in Poland anomaly may result from interrupted blood flow in the developing fetus. The current theory is that during about the sixth week of fetal development, irregular rib growth may block the flow of blood through the subclavian artery. The subclavian artery is a major blood vessel that supplies blood to the head and arms. The severity of this blockage may determine symptom development.
There is a left and a right subclavian artery in humans. The left subclavian artery goes to the aorta, the largest artery in the human body. A blocked left subclavian artery is more likely to result in miscarriage. This could be a factor in why the right side of the body, which receives blood from the right subclavian artery, is two to three times more likely to be affected by Poland anomaly.

Risk factors

Poland anomaly occurs randomly and is usually not inherited. However, there are rare reports of family members and twins with Poland anomaly, suggesting that inheritance may be possible.
The severity of Poland anomaly differs from person to person and is often not diagnosed or reported, which makes the exact incidence difficult to determine. Current estimates are between one in 10,000 and one in 100,000 births.