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| Journal of the New Zealand Medical Association,
27-August-2010, Vol 123 No 1321
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Hayrettin Gocmen, Yücel Akkas, Selim Doganay
Poland syndrome was first described in 1840 by Alfred Poland
while still a medical student and the other components of the syndrome were
described at London Guy’s Hospital following the dissection of a
cadaver’s hand, which had hypoplasia and
syndactyly.1
The main component of this anomaly is absence of the
pectoralis major muscle.2 This may also be
accompanied by the absence or hypoplasia of the pectoralis minor, serratus
anterior, latissimus dorsi, and deltoid muscles, and hypoplasia of the breast
and the absence of nipples in girls. Rarer associations include rib defects,
scoliosis, dextrocardia, renal hypoplasia, leukaemia, and Mobius
syndrome.3 Some studies have reported the
female-to-male ratio to be 1:3,4 whereas other
studies have suggested that both genders are affected
equally.5
The incidence of Poland syndrome has been reported to be 1
in 30,000 live births;6 Poland syndrome affects
the right side in 67%–75% of cases.4,7 In
the present case report, two Poland syndrome patients with ipsilateral
hypomastia and reduction in the axillary/pectoral hairs diagnosed during
adulthood are presented; one patient was affected on the left side and had
widespread café au lait spots, and the other patient had respiratory
dysfunction due to multiple rib anomalies.
Case reportCase 1—A 25-year-old male admitted
with a complaint of congenital chest deformity involving the left side. The
patient complained of a burning sensation on the left side of his chest and lack
of strength in the left arm on extension. The physical examination revealed
absence of the pectoral muscles. The physical examination also revealed
café au lait spots on his chest (Figure 1).
Reduction of hairs in the left axillary region and on the
left side of the chest was noted compared to the contralateral side. There was
no oligosyndactyly (OS). Strength was 5/5 in the right arm and 4/5 in the left
arm. Pectoral muscles in the left hemithorax were not observed on the thoracic
computed tomography (CT) scan (Figure 2). There were no concomitant rib
anomalies.
Figure 1. Pectoral muscles are absent on the
left side (short arrow) and café au lait spot are seen on his right chest
(long arrow)
 Figure 2. Axial plain CT scan shows pectoral
muscles on the right chest (arrows) but pectoral muscles are absent on the left
side
 The abdominal ultrasonography and Doppler imaging of the
neck were free of any pathologic findings. The results of the respiratory
function tests were within normal limits (forced vital capacity [FVC]: 5.37 L
95%; forced expiratory volume1 [FEV1]: 4.82 L 102%; FEV1/FVC: 90%). The patient
had two sisters and no disease-related abnormalities were reported in the family
history
Case 2—A 21-year-old male admitted
with complaints of a deformity of the right side of the chest and dyspnoea on
exertion. The patient complained of lack of strength in the right arm and right
shoulder. The physical examination revealed absence of the pectoral muscles on
the right side and a marked volume loss within the right hemithorax (Figure 3).
The patient had two sisters and no disease-related abnormalities were reported
in the family history. There was hair reduction on the right side of the chest
and in the axillary region.
Figure 3. The pectoral muscles on the right
side are absent. There was hair reduction on the right side of the chest. The
right breast was hypoplastic
 The right breast was hypoplastic and there was no OS. The
strength of the right and left arm was determined to be 3–4/5 and 5/5,
respectively. Pectoral muscles of the right hemithorax were not observed on
thoracic CT scan (Figure 4A). There were rib anomalies involving two levels and
loss of volume within the right hemithorax (Figure 4B, 4C).
Figure 4C. On volume rendering
three-dimensional computed tomography (3D-CT) there were rib anomalies
(arrows)
 The abdominal ultrasonography and Doppler imaging of the
neck were free of any pathologic findings. The results of the respiratory
function tests revealed mild restrictive respiratory insufficiency (FVC: 3.39 L
67%; FEV1: 2.88 L 63%; FEV1/FVC: 74%).
DiscussionPoland syndrome, as first described by Alfred Poland in a
26-year-old male, most often occurs
sporadically.2,8 Some authors have suggested
that Poland syndrome is a genetic disease which is inherited with an autosomal
dominant pattern.9 In fact, Poland syndrome has
even been reported in more than one member of a family and referred to as the
Familial Poland syndrome9. In contrast, Stevens
et al6 have reported the presence of Poland
syndrome in one of two monozygotic twins; thus, there was no purely genetic
transmission. Poland syndrome was not noted in the family members of our
cases.
Although the disease pathology underlying Poland syndrome is
not well understood, various hypotheses have been advanced. The most widely
agreed-upon hypothesis is a decrease in blood flow during the intrauterine
period due to development of malformations or spasm of the brachiocephalic
arterial structures following mutation of the upper extremities while budding
from the chest wall in the 6th–7th weeks
of pregnancy.
Blood flow disruption in the subclavian artery is known to
be a cause of upper extremity injury, while injuries of the pectoralis major
muscle, breast, and the other chest wall structures has been reported to be due
to an effect on the internal thoracic
artery.4,10,11
In addition to anomalies of the pectoralis major muscle,
which is associated with this mechanism, syndactyly of the fingers, ipsilateral
nipple anomalies (hypoplastic, aplastic, or inverted nipples), ipsilateral
radius and ulnar anomalies (hypoplasia and aplasia), and anomalies of the ribs,
are also rarely observed.
Ipsilateral breast hypoplasia and reduction in axillary and
chest hairs was observed in both of our cases; however, there were no syndactyly
or forearm anomalies. Nonetheless rib anomalies at two levels that led
to ipsilateral volume loss in the right hemithorax, was observed in the
second case.
A rare association between Poland syndrome with other organ
system-related symptoms including microcephaly, cerebral atrophy, disorders in
myelination, situs inversus or dextrocardia, hemivertebra, gastroschisis,
paralysis of the cranial nerve or mental retardation, psychosocial retardation,
hypospadias, and urinary system anomalies have also been
reported6. No pathologic findings were observed
on the abdominal ultrasonography and Doppler imaging of the neck in either of
our cases. There was no dextrocardia and no psychiatric or neurologic
complaints.
Absence of the pectoralis major muscle is usually unilateral
and almost always observed on the right side. Our first case had involvement of
the left side, which has been reported as a rare condition; whereas in our
second case, the defect was on the right side.
In 1998, Karnak et al13
replaced this generally accepted opinion by publishing the first case of a
6-year-old girl who was described as having bilateral Poland syndrome anomalies
due to absence of the pectoralis major muscles, symmetric chest wall
deformities, and bilateral arm anomalies, together with hypoplasia of the breast
tissues and nipples.
In spite of Poland syndrome generally causes aesthetic
problems, surgical intervention has tried for only functional aims. In this
context, many attempts at surgical intervention have been performed for
problems, especially the forearm and fingers. Defects of the chest wall do not
generally require treatment.
No cases of Poland syndrome associated with respiratory
dysfunction verified with spirometry have been reported. Normal spirometric
respiratory function was observed in a case with Poland syndrome reported by
Deniz;14 however, mild decreases in the maximum
inspiratory pressure (MIP) and maximum expiratory pressure (MEP) were detected.
In our second case, there was volume loss in the ipsilateral hemithorax and
restrictive respiratory insufficiency, accompanied by anomalies of two ribs.
Our cases admitted with complaints of loss of strength in
the ipsilateral shoulder and arms. The physical examination revealed loss of
strength of the affected side. Mysnysk et al15
have reported the loss of 20% and 29% of horizontal strength following
measurement with a Cybex dynamometer in a study involving two professional
wrestlers with Poland syndrome. Quantitative evaluation with electromyography
(EMG) was also planned in our cases; however, the patients declined testing.
Endocrine anomalies, melanosis, and an increase in the
incidence of benign and malignant tumors may also be observed in Poland
syndrome. Although the most commonly encountered malignant tumors are
lymphoreticular tumours, such as leukemia and lymphoma, childhood solid tumours,
such as neuroblastoma and Wilms’ tumours, may also be
observed16.
A case of a 12-year-old girl who admitted with amenorrhea
and absence of right breast enlargement has been
reported17. No endocrinologic or oncologic
problems were reported in our two cases.
The present report of two cases presented with left-sided
involvement and rib anomalies with respiratory dysfunction, accompanied by
café au lait spots is of clinical importance due to the rare occurrence
of Poland Syndrome with an incidence of 1/30,000.
Author information: Hayrettin
Gocmen1, Yücel
Akkas2, Selim
Doganay3
1Department of Pulmonary
Disease, Inegol Government Hospital, Bursa, Turkey
2Department of Chest
Surgery, Erzincan Government Hospital, Erzincan, Turkey
3Department of Radiology,
Medical Faculty, Erciyes University, Kayseri, Turkey
Correspondence: Hayrettin Gocmen MD,
Beşevler Cad. Şömine Sitesi B Blok D:11, Nilüfer Bursa,
Turkey. Email: dr_hayrettin@yahoo.com.au
References:
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