Síndrome de Poland. Presentación de un caso
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Síndrome de Poland. Presentación de un caso A. L. F ernández González * / A. García Redondo* / A. García Castro* RESUMEN Presentamos un paciente varón de 19 años con síndrome de Poland. Este síndrome consiste básicamente en agenesia de los músculos pectorales mayor y menor acompañada de braquisindactilía ipsilateral. Se desconoce la etiología. El tratamiento quirúrgico de la sindactilia mejora la capacidad funcional. Las anomalías de la pared torácica se suelen corregir cuando existe herniación del pulmón o hipoplasia mamaria. Poland's syndrome consists essen- tially of congenital unilateral absence of the pectoralis majar muscle with ipsilateral upper extremity defects, most commonly brachysyndactyly. It may present with a considerable varie- ty of abnormalities and various degre- es of severity. The syndrome was ori- ginally described by Alfred Poland, a Guy's Hospital student, in 1841 1 • In many patients, especially wo- men, the abnormality represents only a cosmetic problem; in others, there may be important functional distur- bances. Case report A 19-year-old male was evaluated for a congenital right hand deformity. He was born with syndactyly of the index and the long finger. At the age of two years, the patient underwent * Cuerpo de Sanidad Militar del Ejército de Tierra. Regimiento de Caballería Ligero Acorazado Almansa n." 5. Carretera de As- turias, 22. León. separation of the digits. Past and fa- mily history were otherwise noncon- tributory. Physical examination revealed total absence of the rie:ht oectoralis maior muscle. The pectoralis minor muscle was also absent. There was a pectus deformity with prominence of left ribs, particulary 4'h to 7 1 h. Shoulder movements were normal. The lower part of his right axilla was hairless. The areola and nipple on the right side were present but small in size and elevated (Fig. 1). There was ab- sence of the subcutaneous tissue with dense adhesions between the dermis and the chest wall. Chest X-ray films showed slight descent of the right clavicle and un- derdevelopment of the manubrium sterni. No rib abnormalities were de- tected. The heart size and contour were radiographically normal (Fig. 2). The electrocardiogram showed a nor- mal rhythm at a rate of 75 with non- specific ST-segment abnormalities. Fig. 1.-Right-sided Poland's syndrome slwwing elevated nipple and absence of the pectara/is ma- jar muse/e. Fig. 2.-Roentgenogram of the ches/ shows a descended right e/avicie. REVISTA DE MEDICINA DE LA UNIVERSIDAD DE NAVARRA - VOL. XXXIV - N.º 1 - ENERO-MARZO 1990 21
Transcript of Síndrome de Poland. Presentación de un caso
Síndrome de Poland. Presentación de un caso A. L. F ernández González * / A. García Redondo* / A. García Castro*
RESUMEN
Presentamos un paciente varón de 19 años con síndrome de Poland. Este síndrome consiste básicamente en agenesia de los músculos pectorales mayor y menor acompañada de braquisindactilía ipsilateral. Se desconoce la etiología. El tratamiento quirúrgico de la sindactilia mejora la capacidad funcional. Las anomalías de la pared torácica se suelen corregir cuando existe herniación del pulmón o hipoplasia mamaria.
Poland's syndrome consists essentially of congenital unilateral absence of the pectoralis majar muscle with ipsilateral upper extremity defects, most commonly brachysyndactyly. It may present with a considerable variety of abnormalities and various degrees of severity. The syndrome was originally described by Alfred Poland, a Guy's Hospital student, in 1841 1
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In many patients, especially women, the abnormality represents only a cosmetic problem; in others, there may be important functional disturbances.
Case report
A 19-year-old male was evaluated for a congenital right hand deformity. He was born with syndactyly of the index and the long finger. At the age of two years, the patient underwent
* Cuerpo de Sanidad Militar del Ejército de Tierra. Regimiento de Caballería Ligero Acorazado Almansa n." 5. Carretera de Asturias, 22. León.
separation of the digits. Past and family history were otherwise noncontributory.
Physical examination revealed total absence of the rie:ht oectoralis maior muscle. The pectoralis minor muscle was also absent. There was a pectus deformity with prominence of left ribs, particulary 4'h to 71h. Shoulder movements were normal. The lower part of his right axilla was hairless. The areola and nipple on the right side were present but small in size and elevated (Fig. 1). There was absence of the subcutaneous tissue with dense adhesions between the dermis and the chest wall.
Chest X-ray films showed slight descent of the right clavicle and underdevelopment of the manubrium sterni. No rib abnormalities were detected. The heart size and contour were radiographically normal (Fig. 2). The electrocardiogram showed a normal rhythm at a rate of 75 with nonspecific ST-segment abnormalities.
Fig. 1.-Right-sided Poland's syndrome slwwing elevated nipple and absence of the pectara/is majar muse/e.
Fig. 2.-Roentgenogram of the ches/ shows a descended right e/avicie.
REVISTA DE MEDICINA DE LA UNIVERSIDAD DE NAVARRA - VOL. XXXIV - N.º 1 - ENERO-MARZO 1990 21
Fig. 3.-The left hand is nonnal. The right hand is defonned with sh011 fingers.
The lengths of the arm and forearm · were the same in both sides. The right hand was hypoplastic (Fig. 3). lt was functioning well and was his dominant hand. There was an old scar between the index and the long fingers. The distal phalanx of the little finger was supinated 10 degrees. In addition the distal phalanges of the ring and little fingers had radial deviation. The hypoplastic thumb was the most normal digit. X-ray films of the right hand showed brachymesophalangy of the ring and little fingers. Middle phalanges of the index and long fingers were absent (Fig. 4).
Dermatoglyphics were recorded with blue ink. The right hand showed the typical four-finger line. Digital triradii a, b and e were absent. Arches were present on 11, III and V digits. The thumb had a radial loop and digit IV had an ulnar loop. The left hand showed a normal pattern with whorls on ali digits.
Discusion
The basic elements of Poland's syndrome include absence of the costosternal portian of the pectoralis major and minor muscles, hand deformity often consisting of brachyosyndacty~ and hypoplasia of the upper ribs 2
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The etiology of the syndrome is unknown 2
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• Severa! cases have been described in which heredity may be considered as a causal factor, but in most patients family history is noncontributory 2
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Fig. 4.-Roentgenogram of the right hand shows absent middle phalanges of the inde~ and long fingers, as well as hypnplnstic pholn11ges i11 o// fingers.
The hypotheses proposed in order to explain the pathophysiology of the disease include pluri-factorial inheritance, trauma during pregnancy, toxic effects of drugs, failed criminal abortion, hypoplasia of the sub-clavian artery and viral illness 2
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Poland's syndrome affects males more frequently than females and the right side is more often affected than the left 2 •
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The syndrome has an approximate incidence of 1: 30,000 8
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About one-tenth of those suffering from syndactyly have also an ipsilateral defect of the pectoralis muscle 2
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Nevertheless, the absence of the muscle is not obvious and frequently remains undiagnosed 1 2
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• For this reason, sorne authors suggets that the true incidence of Poland's syndrome is probably rather high 12
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The upper extremity deformities associated with Poland's syndrome are hypoplasia of the forearm and hand, radio-ulnar synostosis, carpa! hypoplasia, ectrodactyly and camptodactyly. The syndactyly is usually incomplete and simple. The most frequent hand deformity belongs to Type 1 of Bouvet 6
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• Severe hypoplasia and often complete aplasia of the middle phalanges is common 2 •
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Recognized thoracic complications include absence or deficency of breast tissue, pectus excavatum, scoliosis, maldevelopment of the latissimus dorsi muscle, dextrocardia, homolateral hypoplasia of the sternum and absence of the anterior ribs 4
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• Para-
doxical movement of the involved chest wall and lung herniation through the chest wall deffect have been described 12
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Other anomalies associated include Mobius syndrome, absence of axillary hair and apocrine sweat glands, ear deformities, renal hypoplasia, pigmented nevus, cryptorchidism, trisomy 21 and predisposition to acute leukemia and lymphoma 2
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• 1º· 14
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Dermatoglyphic analysis shows an entirely normal pattern of the unaffected hand. Nevertheless, the abnormal hand shows absence of one or more digital triradii with many radial and ulnar loops 2
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Surgical treatment of hand deformities is initiated at the age of one year. Separation procedures are carried out by using severa! techniques as z-plasty and dorsal skin flap 2
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• Autologous rib grafts are used to stabilize the chest wall 4
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• Myocutaneous latissimus dorsi transposition flap and silastic breast prostheses can be used when the breast is either hypoplastic or absent 2 •
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22•
References
l. Poland A. Deficiency of the Pectoral Muse/es. Guy's Hosp Rep 6: 191-193, 1841.
2. Ireland DCR, Takayama N y Flatt AE. Poland's syndrome. A review of Forty-three Cases. J Bone and Joint Surg 58-A: 52-58, 1976.
3. Loiodice G, Orsi R y Ria N. Considerazioni cliniclie intomo a due casi di sindrome di Poland. Mind Ped 29: 2.331-2.334, 1977.
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4. Haller JA, Colombani PM, Miller D y Manson P. Early Reconstructio11 of Poland's Syndro111e Using Autologo11s Rib Grafts Co111bined With a Latissi111us Muse/e Flap. J Pediatr Surg 19: 423-429, 1984.
5. Argenta LC, Vanderkolk C, Friedman RJ y Marks M. Refi11e111ents in Reconstructio11 of Co11ge11ital Breas/ Defor111ities. Plast Reconstr Surg 76: 73-80, 1985.
6. Oggero R, Galvagno G. Landi M y Ricca V. Si11drome di Po/a11d. Descrizio11e di w1 caso in un /atlante affel/o da fomw típica. Mind Ped 36: 739-744, 1984.
7. Holmstrom H, Suurküla M y Lossing C. Absent latissimus dorsi muse/e and anhidrotic axilla in Poland's Syndro111e. Case Report. Scand J Plast Reconstr Surge 20: 313-318, 1986.
8. Bouvet JP, Maroteaux P y Briard-Guillemot ML. Le syndrome de Poland. Etudes clinique et gé11étique-Co11sidérations physiopa t hologiques. Nouv Presse Méd 5: 185-190, 1976.
9. David TJ. Na t11re a11d etiology of the Po/ami anomaly. N Engl J Med 287: 487-489, 1972.
10. Ca lvani M, Bigliocchi A, Del Porto G, Corelli G y Matteuzzi P. Sindro111e di Pola11d, triso111ia 21 a 111osaico e deficit di li11fociti B con 11or111ali va/01i di i111111unoglobuline seliche. Min Ped 28: 1536-1537, 1976.
11. Chautard EA y Freire-Maia N. Pola11d's Syndro111e. Br Med J 4: 812, 1971.
12. Kuan HZ. Restoratio11 of the defect i11 the anterior rib cage i11 Poland's Syndro111e. Plast Reconstr Surg 82: 196-198, 1988.
13. Brooksaler FS y Graivier L. Poland's Syndrome. Amer J Dis Child 121: 263-264, 1971.
14. Hoefnagel D, Rozycky A, Wurster-Hill D, Stern P y Gregory D . Leuke111ia a11d Poland's Syndro111e. Lancet 2: 1.038-1.039, 1972.
15. Enzeunauer RW y Hastings CP. Leukemia a11d Abse111 Pee/ora/is Major: No Association? Am J Dis Child 135: 763-765, 1981.
16. Esquembre C, Ferris J , Verdeguer A, Diéguez L, Orts A y Castel V. Síndro111e de Poland y leucemia. An Esp Pediatr 26: 149-150, 1987.
17. G ilman PA y Miller RW. No Link Between Poland Syndro111e and Leuke111ia ? Am J Dis Child 136: 176, 1982.
18. Boaz D , Mace JW y Gotlin RW. Poland's Syndro111e and Leuke111ia . Lance! 1: 349-350, 1971.
19. Miller RA y Miller DR. Congenital absence of the pectoralis 111ajor 11111scle with acule ly111phoblastic /e11ke111ia and genitouri11a1y a110111alies. J Pediatr 87: 146-147, 1975.
20. Hershatter BW y Montana GS. Pola11d's Syndro111e a11d Ly111pho111a. Am J Dis Child 137: 1.211-1.212, 1983.
21 . Lanzkowsky P. Abse11ce of pee/ora/is major m11sc/e i11 associatio11 with acule /euke111ia. J Pediatr 86: 817-818, 1985.
22. Santi P, Berrino P y Galli A. Pola11d's Sy11-dro111e: Correctio11 of Thoracic A11omaly Through Mi11i111al Incisio11s. Plast Reconstr Surg 76: 639-641, 1985.
POLAND'S SYNDROME. A CASE REPORT
Summary
A case of Poland's syndrome in a 19-years-old male is briefly described. This syndrome is characterized by congenital absence of the pectoralis majar and minar muscles as well as homolateral brachysyndactyly. The etiology is unknown. Surgical repair is aimed at constructing a functional hand. Ches! deformities usually does not require surgery except in cases of lung herniation or breas! hypoplasia.
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