What is Poland syndrome
Synonyms of Poland Syndrome are Poland Anomaly, Poland Sequence, Poland Syndactyly and Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand
Poland Syndrome is a congenital condition characterized by absence of chest wall muscles on one side of the body and ipsilateral short, webbed fingers (symbrachydactyly).
There is unilateral absence of the pectoralis minor and the sternal or breastbone portion of the pectoralis major muscles.
The absence of the sternal head of the pectoralis major muscle is considered the minimal expression of this syndrome.
Involvement of adjacent muscles, including the pectoralis minor, serratus, latissimus dorsi, and external oblique, also has been described.
The pectoralis major is a large muscle of the upper chest wall which gives the chest its shape and forms anterior edge of axilla. It arises from sternum or breastbone, clavicle and cartilages of the second to the sixth ribs. It inserts on to shoulder and is particularly useful in pushing and rowing activities.
Pectoralis minor is underneath pactoralis major arises from the third to fifth ribs and functions to rotate the shoulder.
Variable associated features are
- Underdevelopment or absence of one nipple and areola
- Nipple is higher as compared to normal nipple
- Absence of axillary hair under the arm
- plastic of breast and underlying tissues in females
- Skeletal abnormalities may also accompany
- Underdevelopment or absence of upper ribs
- Elevation of the shoulder blade (Sprengel deformity)
- Shortening of the arm and underdevelopment of the forearm bones
Males are more commonly affected than females. Right side is more affected than left.
Poland syndrome was first described by Alfred Poland in 1841 and is named after him.
The exact incidence of the disease is not known.
Most Poland syndrome cases arise sporadically.
However, familial involvement has been reported, suggesting some degree of genetic transmission.
Association with Mobius syndrome and Klippel-Feil syndrome is known. Malignancies like leukemia and non-Hodgkin lymphoma, may occur in patients with Poland syndrome.
Causes of Poland Syndrome
Exact cause of Poland syndrome is not known.
Most of the available evidences say that the condition results from what has been called as subclavian artery supply disruption sequence. It occurs because of forces resulting from the medial and forward growth of the ribs and causes formation of U pattern of the subclavian vessel leading to hypoplasia and causing disruption of the blood flow through subclavian artery, vertebral artery, and/or their branches).
Add image of subclavian artery and branches
More proximal occlusion result in more severe syndromes.
Depending upon the location and severity of involvement, the clinical presentation may of Poland Syndrome, Mobius Syndrome, Klippel-Feil Syndrome, and Sprengel deformity.
That is why Poland Syndrome is sometimes referred to as Poland sequence.
[A sequence refers to a pattern of malformations derived from a single anomaly.]
Related Disorders or Sequences
Poland Syndrome has been reported to occur in association with Mobius Syndrome, known as Poland-Mobius Syndrome.
These patients are characterized by facial paralysis due to impairment of the sixth and seventh cranial nerves (Mobius Syndrome) associated with the chest wall defects and/or hand malformations (symbrachydactyly) typically seen in Poland Syndrome.
Mobius Syndrome may be characterized by
- Masklike expressionless face
- Inability to perform certain eye movements
- Drooping of the upper eyelids
- Tongue hypoplasia with decreased mobility
- Poor sucking and swallowing
- Speech impairment
- Limb deformities
- Mental retardation
Charlie M Syndrome
is a rare condition characterized by certain distinctive facial and limb malformations.
The syndrome is characterized by
- Widely spaced eyes or ocular hypertelorism
- Broad nose and small mouth
- Cleft palate
- Micrognathia – small jaw
- Facial nerve paralysis in some cases
- Absent or cone-shaped front incisors
- Asymmetric abnormalities of the fingers and toes
Presentation of Poland Syndrome
The classic features of Poland syndrome areipsilateral [mostly right sided]
- Absent of sternal head of the pectoralis major muscle
- Hypoplasia and/or aplasia of breast or nipple and areola
- Minimal of subcutaneous fat and axillary hair
- Rib cage anomalies
- Upper limb abnormalities
- Short arm
- Short forearm
- Brachysymphalangism – Short joined fingers
- Underdevelopment or absence of serratus, external oblique, pectoralis minor, latissimus dorsi, infraspinatus, and supraspinatus muscles
- Total absence of anterolateral ribs
- Lung herniation
Though Poland syndrome is present at birth, most of the patients do not seek consultation till late for asthetic options.
Apart from looking at clinical manifestations, following things should be looked as these affect the treatment
- Stage of breast development
- Status of the latissimus dorsi muscle – Present or absent or hypoplastic
- Extraocular movements – to look for associated Mobius syndrome.
- Abnormal elevation and/or underdevelopment of the scapula
- Sprengel Shoulder
To determine extent to which the muscles and bones of the chest wall are affected.
CBC and Blood Film Examination
If leukemia and non-Hodgkin lymphoma are suspected.
Treatment of Poland Syndrome
Many patients may not seek he treatment. The treatment of Poland Syndrome would depend on the specific symptoms.
Generally, the patients present for treatment of the chest deformity and breast asymmetry. Some patient may not want surgical treatment and counseling would suffice.
Following are important determinants that influence the timing and options for reconstruction:
- Breast development
- Presence of latissimus dorsi muscle,
- Degree of chest wall deformity.
Chest deformity can be reconstructed with the latissimus dorsi muscle as early as age 13 years. Rib abnormalities if severe, need to be addressed.
Breast reconstruction provides best results once the breast has fully developed.
Before that, one may consider early treatment with a temporary expander especially if the patient is psychologically being affected.
[Breast implants and expander should not be placed in patients who are too young.]
Upon completion of breast development (18-19 yrs age), the tissue expander can be removed and the breast can be reconstructed with the latissimus muscle transposed over a permanent implant.
If the latissimus is absent, opposite latissimus dorsi or other adjoining muscles may be tried.
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