Download POLAND SYNDROME

Lip Teh
January 2006
POLAND’S SYNDROME
 First by Froriep (1839) in the non-English literature. Poland (1841), while still a medical student at Guy’s
Hospital, dissected an anomaly with absent pectoral muscle associated with hand deformities.
 Clarkson (1962) described a patient and gave Poland credit for his earlier description.
DEFINITION
 Pectoral aplasia-dysdactyly syndrome
 Essential features
1. Absence of sternal head of pectoralis muscles,
2. Deficiency of subcutaneous fat and axillary hair
3. Hypoplasia and/or aplasia of breast and areola.
4. Anomalies of costal cartilages and anterior rib ends
5. shortening of the hand, forearm and arm, brachysyndactyly

Other features
1. absence of the pectoralis minor
2. variable degrees of deformity of the serratus, infraspinatus, supraspinatus, latissimus dorsi, and
external oblique muscles
3. total absence of the anterior lateral ribs with herniation of the lung
4. symphalangism with syndactyly and hypoplasia or complete absence of the middle phalanges
5. foreshortening and hypoplasia of the forearm
6. anomalies of neurovascular structures of the ipsilateral arm

defining feature- partial or complete aplasia of the sternocostal head of the pectoralis muscle in
conjunction with variable chest and upper extremity deformities
INCIDENCE
1. Uncommon, but not rare- varies from 1 in 20,000 to 1 in 32,000 births
2. A variety of anomalies affecting the upper limb and torso.
3. M>F (McC). SRPS: M=F (males are under reported)
4. R>L (2:1). Rarely bilateral – some call this a separate entity - chest wall dysplasia
5. Most are sporadic, genetic transmission reported in 15 families – autosomal dominance
Lip Teh
January 2006
Pathophysiology
1. Probably related to intrauterine vascular insult rather than genetic.
2. The intrauterine insult is thought to be subclavian artery supply disruption sequence (SASDS) that occurs
during the 6th week of gestation.
3. As the ribs grow, the artery is pushed into a U-shaped curve that can lead to vessel occlusion. Subclavian
artery diameter and flow has been shown to be reduced.
4. pectoral mass splits by the 6th week of gestation into a clavicular part, which is the primordium of the
clavicular head of the pectoralis major muscle, and a costal part, which is the primordium of the
pectoralis minor muscle and the sternocostal head of the pectoralis major
5. at the same period, the web spaces begin to develop in the hand – thus syndactyly occurs
6. Depending on the site of occlusion of the embryonic blood supply in the subclavian or vertebral arteries ,
the abnormality produced may be Poland’s, Mobius or Klippel-Feil.
7. Associations:
a. Mobius syndrome has been reported (1 in 500 000). Check for it - examine VII(100%) and
VI(75%)
b. hematopoietic malignancy (leukemia and non-Hodgkin’s lymphoma).
FEATURES
SHOULDER GIRDLE
1. Muscles
Lip Teh
January 2006

Absence of the sternal head of Pec major is the minimal expression of the syndrome.

Adjacent muscles can be involved too: Pectoralis minor, Serratus, Lat dorsi (can be hypoplastic or
absent), Ext oblique, supraspinatus and infraspinatus
2. Breast / Skin

Breast hypoplastic: The most frequent cause of congenital breast aplasia or hypoplasia.

Nipple lies high (in males), may be small and hypoplastic. Small areola.

Hypoplastic with a thin subcutaneous layer. Axillary hair may be absent.
3. Bone
1. Absence of portions of ribs or costal cartilages anteriorly
2. Sternal rotation toward the involved side
3. Scapula may be smaller with winging (Sprengel’s deformity)
4. Vertebral anomalies
HAND
1. Hypoplasia of forearm, hand and digits.
2. Variable syndactyly, usually simple, complete or incomplete (I, M, R ) LF most normal. Narrow 1st
web
3. Fusion of carpal bones
4. Brachysymphalangism: short, fused IPs with hypoplastic or aplastic middle phalanges (mild ischemic
insult during stage 19 of the embryonic life, leading to an arrest or lack of chondrification of the
mesenchymal mass of the phalanx.)
5. in severe involvement - radial club hand with floating/absent thumb or cleft hand may be seen, or
completely missing fingers (adactyly)
Differential Diagnosis
1. Anterior Thoracic hypoplasia (Scott Spear PRS 2004)
a. unilateral sunken anterior chest wall, hypoplasia of the breast, superiorly placed nipple-areola
complex, and normal sternal position.
b. Unlike Polands, the pectoralis muscles are completely normal
c. A defining features is posterior depression of the third through seventh anterior ribs
unilaterally, whereas Poland syndrome has no such rib deformities
Lip Teh
January 2006
d. ? related to in utero compression (deformation)
TREATMENT
SHOULDER GIRDLE AREA
 Absent pectoralis muscle poses no functional problem.
 The main concerns are usually aesthetic:
a) Breast
b) Absent anterior axillary fold
c) Pectoral depression in males
d) Occasionally rib deformities
Breast
 Reconstructive goals largely for aesthetics as respiratory compromise is rare:
1. achieve breast symmetry
2. recreate an anterior axillary fold
3. provide adequate infraclavicular fullness.
 A number of options exist for correction of the breast deformity
1. TE /implant
a. Ideal for adolescent girls to expand skin envelop prior to implant insertion
b. where there is minimal infraclavicular hollowness or if the anterior axillary fold deformity is
not prominent
c. Subcutaneous placement
d. inflated at intervals to match the development of the unaffected breast
e. may enlarge the hypoplastic nipple-areolar complex (NAC) often present in these patients and
sometimes correct the ccentric and elevated NAC
2. Expander-prosthesis
3. Custom made Silastic chest wall prostheses
4. Latissimus dorsi plus implant/TE
a. Benefit of submuscular implant coverage and creation of anterior axillary fold. Implant placed
via lateral incision (Hester and Bostwick PRS 1982)
Lip Teh
January 2006
5. Autologous: TRAM (Longacre), superior gluteal (Fujino).
 Autologous tissue reconstruction has the advantage of permanency, softness, pliability and warmth and
allows secondary contouring if required. Does not have the problems associated with prosthesis
 Some believe bony deformity need to be corrected prior to implant augmentation to prevent implant
dislodging, adequate projection and symmetry.
a. Autografts – rib grafts
b. Alloplastics – Marlex mesh, Prolene mesh, synthetic dura
 Longacre (PRS Feb 1997) 9 patients aged 18 to 47 years - 12 microvascular transfers (8 TRAMS, 2
superior gluteal flaps, 1 inferior gluteal flap and 1 contralateral latissimus dorsi free flap) all hitched to
branches of subscapular vessels. 1 flap failure; 2 C/L TRAMS done for symmetry; 2 BRs done for
symmetry.
 Reconstruction in males is different: more amenable to prosthesis. Breast mound is not needed.
 Best method of breast reconstruction still not established.
There is a high rate of prosthesis
complication and reoperation in implant only patients (capsular contracture, etc) and therefore
some recommend latissimus dorsi and implant (Tony Connell) or autologous reconstruction
 Vascular and muscular anomalies can complicate the reconstruction in Poland’s. Longacre recommends
imaging of recipient vessels pre-op.
Adjunctive procedures
Lip Teh
January 2006
1. contralateral breast – mastopexy, reduction, augmentation
2. NAC

nipple-sharing composite grafts if the unaffected nipple is of adequate size, or consider
nipple reconstruction with local flaps

Areolar discrepancies can be corrected with crescent excisions, strategic tattooing
Anterior axillary fold
 In males, consider reconstruction in early adoslescence if using lat dorsi alone. Otherwise wait till growth
complete.
 Correction of anterior axillary wall is difficult and results have been disappointing with prosthesis.
 Latissimus dorsi if present is transposed anteriorly has proved useful in both covering the breast implant
(in females), filling the infraclavicular hollow and re-creating the anterior axillary fold.
 Technique:
1. limited incision along bra-line endoscopic assistance
2. lateral border of the latissimus dorsi muscle sutured to the caudal margin of the sternal head of
the pectoralis major muscle
3. lumbosacral fascia of the latissimus dorsi muscle was sutured to the periosteum of the lateral
border of the sternum
4. insertion of the latissimus dorsi muscle was transferred anteriorly and sutured to the
periosteum of the acromion or to the bicipital groove of the humerus
 The LD may be hypoplastic in some patients and some authors have expressed concerns about using one
shoulder girdle muscle when another is congenitally absent. The precise extent of the LD deformity
cannot be judged by clinical examination alone but generally is an acceptable trade-off
Bone
 Usually costal cartilage deformities corrected at the time of breast reconstruction.
 Rib and sternal deformities may be best corrected by selective osteotomies (Ravitch).
 Some have used autogenous onlay rib grafts to correct the bony deformity.
 Others correct the chest wall deformities with prothetic meshes.
 Bony deformity requiring correction fortunately uncommon and in Scott Spear’s experience, most patients
prefer to avoid.
Timing
Lip Teh
January 2006
 The age to embark on reconstructive surgery is controversial.
 McC suggests waiting until maturity, but more recently, with the advent of TE, surgery may be earlier
with a TE that keeps pace with contralateral breast development and is replaced with a custom made
implant at maturity. Often it is useful to place the expander beneath a latissimus dorsi flap.
 Permanent expander-prostheses (Becker type, etc) have also been used.
Hand
Principles:
Simple syndactyly corrected by conventional methods:
1. Dorsal flaps to line the commissure (Zeller, 1810)
2. Zig zag incisions with 900 angles to reduce contracture (Cronin, 1943)
3. Supplementary grafts for raw areas: FTSG better than SSG; usually from groin or abdomen; beware future
hair-bearing areas. Other graft sites: hypothenar, instep, spare parts, foreskin.
4. One side of a digit at a time.
5. Skeletal deformities, if present, corrected, especially collateral ligament reconstruction.
6. Nail bed/fold reconstruction is important.
7. Role of Distraction? Not described in literature
8. Meticulous technique: careful assessment and planning, accurate marking of flaps, tourniquet, loupes, GA
with supplementary LA blocks, haemostasis, careful tissue handling, accurate closure, immobilisation
9. Timing: Should be done by 2 years and definitely before starting school. Simple syndactyly 1-2 year.
Earlier (6-12 months) if Th/I cleft, digits of different length, distal bony fusion or complicated.
Forearm hypoplasia usually requires no Rx (? DOG; bone transfers: free or vascularised
Arthroplasty or arthrodesis may be required for fused IPs - usually done later.