Kelainan yang dialami Kartina itu menarik perhatian dokter spesialis bedah dan konsultan bedah tumor (kanker)

di Padang, Daan Khambri. Menurut dia, wanita dengan empat payudara itu di dunia kedokteran dikenal dengan mammae aberans atau mammae accessories. Hal itu dapat terjadi pada siapa saja, baik laki-laki maupun perempuan, dan merupakan bawaan lahir. Perkembangan seperti itu terjadi saat bayi dalam kandungan. Yakni, pada minggu keenam hingga kesepuluh pada peristiwa pembentukan organ tubuh (organo genesis). Biasanya, (payudara tambahan) paling banyak ditemui di daerah ketiak dan nomor dua terbanyak di bawah dada. "Tumbuhnya payudara (tambahan) pada manusia sama halnya dengan mamalia lain, yaitu di garis susu (milk line)," kata Daan Khambri. Milk line yang dimaksud Daan mulai ketiak hingga lipatan paha. Kelainan itu hingga saat ini belum diketahui penyebabnya. Tapi, perempuan memiliki risiko dua kali lebih rentan dibanding laki-laki. Keadaan tersebut tidak berbahaya, tetapi mengganggu. Sebab, saat hamil air susu juga keluar, payudara membesar, dan muncul rasa nyeri seperti payudara normal. Yang lebih mengkhawatirkan, segala penyakit payudara pun dapat dialami. Misalnya, kanker payudara dan penyakit lain. "Untuk mengurangi risiko, sebaiknya dioperasi," ujar Daan. Untuk menghindarinya, Daan menyarankan para ibu hamil menjaga kesehatan. Terutama pada minggu ke-6 hingga ke-10. Ibu diharapkan menjaga asupan gizi. Jangan makan obat sembarangan, seperti obat penenang (luminal). Sebab, luminal dapat menyebabkan terjadinya bibir sumbing. Kelainan lain yang dapat terjadi di masa ini, antara lain bayi yang tidak punya anus, usus keluar, pusar membesar, dan lain-lain. Hal senada diungkapkan dr Greg Agung SpOG, dokter spesialis kebidanan dan kandungan RS DKT Gubeng Pojok Surabaya. Menurut dia, kejadian seperti yang dialami Kartina cukup langka. Kelenjar payudara tambahan itu biasanya diketahui ketika pasien hamil dan menyusui.

Namun, bila tak digunakan untuk menyusui, kelenjar payudara tambahan itu otomatis menyusut. Greg mengaku juga pernah menangani pasien dengan kelainan tersebut. "Seingat saya, kelenjar payudara tambahan yang saya tangani muncul di ketiak," jelasnya. Karena itu, pasien minta kelenjar payudara tambahan tersebut dibuntu saja. "Ada dua cara pembuntuan, yakni diberi suntikan atau pembedahan ringan," tambahnya.

A cystic hygroma is a sac-like structure with a thin wall that most commonly occurs in the head and neck area. Reference from A.D.A.M. Alternative Names Lymphangioma Causes A cystic hygroma is a birth defect. It occurs as the baby grows in the womb from pieces of material that carries fluid and white blood cells. Such material is called embryonic lymphatic tissue. After birth, a cystic hygroma usually looks like a soft bulge under the skin. The cyst can't be seen until after birth, and sometimes is not noticed until the person is older. Symptoms A common symptom is a neck mass found at birth, or discovered later in an infant after an upper respiratory tract infection. Exams and Tests The following tests may be done:

Chest x-ray Ultrasound CT scan

Treatment Treatment involves complete removal of the abnormal tissue whenever possible. However, cystic hygromas can often invade other neck structures, making this impossible. Other treatments have been attempted with only limited success. These include:

Chemotherapy medications Injection of sclerosing medications Radiation therapy

Steroids

Outlook (Prognosis) The outlook is good if surgery can totally remove the abnormal tissue. In cases where complete removal is not possible, the cystic hygroma commonly returns. Possible Complications Complications may include:

Bleeding Damage to structures in the neck caused by surgery Infection Return of the cystic hygroma

When to Contact a Medical Professional If you notice a lump in your neck or your child's neck, call your doctor. Background First described by Wernher in 1843, cystic hygroma (CH) is a cystic lymphatic lesion that can affect any anatomic subsite in the human body. CH usually affects the head and neck (approximately 75%), with a left-sided predilection. Within the neck, the posterior triangle tends to be most frequently affected. Approximately 20% of CHs occur in the axilla; more infrequent subsites include the mediastinum, groin, and retroperitoneum. CH is synonymous with cystic lymphangioma, which is also known as a macrocystic lymphatic malformation and was first described in 1828 by Redenbacker. Pathophysiology Lymphangiomas are thought to arise from a combination of the following: a failure of lymphatics to connect to the venous system, abnormal budding of lymphatic tissue, and sequestered lymphatic rests that retain their embryonic growth potential. These lymphatic rests can penetrate adjacent structures or dissect along fascial planes and eventually become canalized. These spaces retain their secretions and develop cystic components because of the lack of a venous outflow tract. The nature of the surrounding tissue determines whether the lymphangioma is capillary, cavernous, or cystic. CHs tend to form in loose areolar tissue, whereas capillary and cavernous forms of lymphangiomas tend to form in muscle. Studies using cell proliferation markers have demonstrated that lymphangioma enlargement is related more to engorgement than to actual cell proliferation. Molecular studies suggest that vascular endothelial growth factor C (VEGF-C) and its receptors may play an important role in the development of lymphatic malformations. In addition to congential development, lymphangiomas can be acquired. They can arise from trauma (including surgery), inflammation, or obstruction of a lymphatic drainage pathway.

Frequency International The incidence of CH is estimated to be 1 case per 6,000-16,000 live births. Mortality/Morbidity Mortality has been reported to be as high as 2-6% in some series, usually secondary to pneumonia, bronchiectasis, and airway compromise. Obviously, this figure is pertinent in the larger-sized lesions. As expected, morbidity depends on the anatomic location of the CH. In general, morbidity is related to cosmetic disfigurement and impingement on other critical structures such as nerves, vessels, lymphatics, and the airway. Race Most series report no racial predominance, although a decreased incidence in African Americans has been described. Sex The sex distribution is equal. Age Most cystic hygromas (50-65%) are evident at birth, with 80-90% of CHs presenting by age 2 years. Some authors believe that all CHs are present at birth, although they may have not yet fully manifested at that time. CH can be visualized using abdominal ultrasonography by 10 weeks' gestation, although transvaginal ultrasonography provides superior detail. Fast-spin MRI can also be used to determine the extent of fetal CH. Elevated alpha fetoprotein levels in amniocentesis fluid has been reported in pregnancies with CH. Clinical History The presenting signs and symptoms of the cystic hygroma (CH) vary depending on the lesion's location.

The microcystic form of lymphangioma tends to predominate over CH in the oral cavity and oropharynx. Microcystic lymphangiomas commonly appear as clusters of clear, black, or red vesicles on the buccal mucosa or tongue. CHs tend to predominate below the mylohyoid muscle and can involve both the anterior and posterior triangles of the neck.

The cysts are typically large and thick walled and have little involvement of surrounding tissue. The overlying skin can take on a bluish hue or may appear normal. CHs often present after a sudden increase in size secondary to infection or intralesional bleeding. Spontaneous decompression or shrinkage is uncommon. Rarely, children with CH display symptoms of newly onset obstructive sleep apnea syndrome (OSAS). This situation may involve children with CH or other spaceoccupying lesions of the supraglottis or paraglottic region. Suprahyoid lymphangiomas tend to cause more breathing difficulties than infrahyoid lesions. Potentially life-threatening airway compromise that manifests as noisy breathing (stridor) and cyanosis is a possible symptom of lymphangiomas. Feeding difficulties, as well as failure to thrive, may alert the clinician to a potential lymphangioma. This is especially true when the lesion affects structures of the upper aerodigestive tract.

Physical

CHs are typically soft, painless, compressible (doughy) masses. A CH typically transilluminates. In children who present with CH of the neck, closely evaluate for tracheal deviation or other evidence of impending airway obstruction. Closely inspect the tongue, oral cavity, hypopharynx, and larynx because any involvement may lead to airway obstruction. Referral to an airway expert (otolaryngologist) to potentially perform a fiberoptic airway evaluation is justified in patients with a lymphatic malformation.

Causes Karyotypic abnormalities are present in 25-70% of children with CH. CH has been noted to be more common in persons with Turner syndrome, Down syndrome, and trisomy 18 and 13, although these are not considered a cause. In addition, several nonchromosomal disorders, including Noonan syndrome, Klinefelter syndrome, Fryns syndrome, multiple pterygium syndrome, and achondroplasia are associated with an increased incidence of CH. Intrauterine alcohol exposure has been associated with the development of lymphangiomas. Dissolution of bone caused by either lymphangiomas or hemangiomas is termed Gorham-Stout syndrome. Cystic hygroma, colli Thangam R. Varma, PhD, FRCS, FRCOG Address correspondence to Thangam R Varma, PhD, FRCS, FRCOG, St George"s Hospital & Medical School, Cranmer Terrace, London, SW17 ORE, United Kingdom, Ph: 44-81-672-9944, Fax: 44-81-767-9585. Synonyms: Lymphangioma, jugular lymphatic obstructive sequence, hygroma colli cysticum.

Definition: The term hygroma means moist tumor. Cystic hygroma colli are anomalies of the lymphatic system characterized by single or multiple cysts within the soft tissue, usually involving the neck. It contains a clear or cloudy fluid-like lymph. Prevalence: The incidence of cystic hygroma colli is not well defined. Reports range from 1.7:10,000 pregnancies to 0.83% of pregnancies at risk for having a structural anomaly 1-4. Byrne et al.1 reported that cystic hygroma colli was found in 0.5% of spontaneously aborted fetuses with crown-lump length greater than 30mm. Etiology: In the embryo, the lymphatic system drains into the jugular lymphatic sac. A communication between this primitive structure and the jugular vein is formed at 40 days of gestation (conceptional age). Failure of development of this communication results in lymphatic stasis. Dilatation of the lymphatic channels leads to the clinical manifestations of the jugular lymphatic obstructive sequence5. Dilatation of the jugular lymphatic sac leads to the formation of a cystic structure in the cervical region. Pathology: Over-distention of the jugular lymphatic sacs that are located in both sides of the neck results in the formation of a cystic structure that is usually partitioned by a thick fibrous band corresponding to the nuchal ligament. Within the cystic structure, thinner septa are seen and are thought to derive from either fibrous structure of the neck or deposits of fibrin6. Associated anomalies: Cystic hygroma colli are very frequently associated with chromosomal aberrations and consequently with a wide variety of anatomic defects. Differential diagnosis: Cervical meningocele, cephaloceles, neck tumors, subcutaneous edema, goiter, cystic teratoma and hemangioma. Prognosis: The mortality rate of cystic hygroma colli with hydrops is 100%. In many cases, intrauterine demise occurs within the first two trimesters of pregnancy. Recurrence risk: The recurrence risk for aneuploidy is low, but cystic hygroma colli with a normal karyotype may be inherited as an autosomal recessive trait with 25% recurrence. Management: Standard obstetrical care. MESH Lymphangioma-diagnosis; Thoracic-Neoplasm,-congenital BDE 3284 MIM 257350 ICD9 2281 CDC 239.200 (neck location), see also 228.100 for non-neck location (Soft tissue anomalies) Introduction Cystic hygroma colli probably represent the most common cause for a neck mass detected prenatally. Other neck masses detectable ultrasonically include cervical meningomyelocele, hemangioma, teratoma, goiter, sarcoma, and metastatic adenopathy. Occasionally, a large cephalocele may mimic a neck mass. In most of these rare cases, polyhydramnios, hydrops fetalis, or other clinical features signal a careful search of the fetal neck.

Even when the ultrasonographer cannot predict the exact histology of a neck mass, detection of a tumor permits optimal perinatal management since large but histologically benign tumors may cause dystocia or obstruct the upper respiratory tract and necessitate emergency intubation at birth. In other cases, detection of a neck abnormality (ie, cystic hygroma colli) may indicate a high likelihood of chromosomal anomaly or biochemical disturbance (i.e. goiter). Attempts at definitive antenatal diagnosis of fetal neck abnormalities, therefore, are by no means merely a mental exercise but provides useful clinical information. Polyhydramnios with excessive fetal movements, extreme maternal obesity, or flexion of the neck with fetal crowding during the third trimester may limit visualization of the neck in approximately 5% of cases7. The most useful parameters to assess following detection of a neck abnormality are included in Table 1. Table 1: Useful parameters to assess neck abnormality. A. Is an abnormal neck mass present? If so: Is the mass unilateral or bilateral, posterior or anterior ? Is the mass in the midline or not ? What are its echotexture and Doppler characteristics ? most bilateral posterior masses are cystic hygroma colli, especially multicystic masses with a midline septation. most unilateral anterior masses are teratomas most bilateral anterior masses are goitre hemangiomas can occur anywhere with variable echotexture, but have typical arterial and venous Doppler signal. B. Is polyhydramnios or a concomitant anomaly present? These signs often indicate a poor prognosis. C. Is the neck abnormality positioned? Hyperextension occurs with face presentation but can occasionally signify the presence of an anterior mass of the face or neck or fusion of the back of the head to the spine.

Review of seven cases Materials and methods Seven cases of cystic hygroma colli were diagnosed from January 1985 to December 1991 at St George"s Hospital, London, U.K., using ultrasonic examination. Routine ultrasonic examination was performed on all women who were scheduled to have their babies at St. George"s Hospital between 16 and 20 weeks gestation, to confirm the gestational age, to exclude or confirm multiple pregnancies and to exclude fetal anomalies. The ultrasonic examinations were performed by two obstetricians skilled in the technique and by one skilled senior ultrasonographer. Of the 4760 patients who underwent the examination, seven were found to have a fetus with cystic hygroma colli of varying size. The diagnosis was made before they completed 20 weeks gestation. The ultrasonic examination was performed using Kretz Combison 320 using a 3.5 MHz sector scanner transducer at a velocity of 1540 meters per second. Following the ultrasonic diagnosis of cystic hygroma colli, the findings were discussed with the couple, and they were counselled for further assessment using karyotyping following amniocentesis or cordocentesis and for termination of pregnancy. All seven patients requested for karyotyping and termination of pregnancy. Five of seven had cordocentesis, and two had amniocentesis at 16 weeks gestation. Subsequently, all seven underwent PGE2 termination of pregnancy without any complication, within 12 hours of initiation of termination. All the seven fetuses had skin biopsy for karyotyping, and they were examined macroscopically by the resident on-call who documented the findings. The fetus was sent for further examination to the Department of Histopathology for the attention of the specialist who examines all the fetuses and infants born dead or who died within four weeks after birth. Results The diagnosis of cystic hygroma colli was established by the following criteria: asymmetric, thin-walled multiseptate, cystic masses of the posterolateral aspects of the neck, absence of meningocele, cephalocele, and calvarial defects. Two of the seven fetuses with cystic hygroma colli had sonographic evidence of ascitis and mild pleural effusion. All the seven fetuses had abnormal karyotyping. Five of the seven (71%) had monosomy X (45X0), one had trisomy 21 and one had trisomy 18. All the seven patients opted for termination of pregnancy. The skin biopsy from all the seven fetuses confirmed the original karyotyping. All the fetuses were examined by the specialist pathologist and confirmed that the seven fetuses had cystic hygroma colli and two had ascitis and mild pleural effusion. But none had any other structural abnormalities. The age of the patients ranged between 24 and 38 years, and the parity ranged between 0 and para 4. Table 2 shows the details of the seven women.

Discussion The incidence of cystic hygroma colli in the group of 4760 patients who had an ultrasonic examination was approximately 1 in 680. A review of the literature shows that the incidence of cystic hygroma colli ranges from 1 in 6000 to 1 in 120 pregnancies1-4. Only two of seven (28.5%) had hydrops, whereas Chervenak et al11 and Pearce et al12 reported that the incidence of hydrops was 76%. However, the hydrops fetalis usually develops towards the end of second trimester or third trimester. All our seven patients had an early diagnosis in early second trimester and had an early terminationhence the reason for the low incidence of hydrops fetalis. Four of seven (59%) had oligohydramnios, one had polyhydramnios and two had normal amount of amniotic fluid. Chervenak et al11 and Pearce et al12 reported that 60% of pregnancies with cystic hygroma colli had oligohydramnios. Five of seven (71%) had monosomy X (45X0). The others reported an incidence of 45%50%9,11,13,17. None of our seven patients opted to continue with the pregnancies; hence, the outcome of pregnancies with cystic hygroma colli, if continued, could no be assessed. However, in view of the fact they were complicated by the chromosomal analysis, the prognosis would have been poor. Clinical and pathological findings Cystic hygroma colli probably results either from abnormal embryonic sequestration of lymphatic tissue or from abnormal budding of lymphatic endothelium between the sixth and ninth week of gestation8. Failure of the jugular lymphatic sacs to drain into the internal jugular vein probably results in the dilatation of the lymphatic sacs into cystic spaces and may lead to the jugular lymphatic obstruction sequence and hydrops fetalis 9. If the connection is formed, the sequence is interrupted and the fluid collections are resorbed. The redundant skin will give rise to webbed neck (pterygium colli), which is typical characteristic of Turner"s syndrome and of many other genetic and nongenetic conditions. Cystic hygroma occurs in the neck in approximately 80% of cases; it is then termed cystic hygroma colli. It typically involves the posterior and lateral portions of the neck and often occurs bilaterally in an asymmetric fashion, although the left posterior triangle is the most frequent single location postnatally. The size of the lesions may vary greatly from small collections of fluid to enormous cysts that may be larger than the fetal head. In cases of generalized hydrops, pleural effusion, ascitis, and severe skin edema are present. Associated anomalies Cystic hygroma colli are frequently found in association with chromosomal anomalies, mainly Turner"s syndrome (50%). Trisomy 21 (6.6%), trisomy 18 (5%), trisomy 13 (3.3%), and 47 XXY (1.6%) were also found associated with cystic hygroma colli. When isolated, this anomaly can be inherited as an autosomal recessive trait10. Webbed necks or redundant

skin are found in genetic and nongenetic syndromes, such as Noonan"s syndrome, familial pterygium colli, and fetal alcohol syndrome. Cystic hygroma colli often progresses to hydrops fetalis. In four of the largest series reported 59 of 79 (76%) fetuses with cystic hygroma colli had hydrops9,11,12,13. Oligohydramnios complicates 60% of pregnancies with cystic hygroma colli, whereas polyhydramnios is unusual11,12. The etiology for oligohydramnios remains conjectural, but it possibly results from fetal hypoperfusion leading to decreased renal output; the polyhydramnios probably represents a manifestation of hydrops rather than esophageal compression. Cystic hygroma colli has been described in rare cases with cardiac defects, diaphragmatic hernia, or hydronephrosis, and as a manifestation of the Noonan and Roberts syndromes2,14,15,16. Approximately 45%-50% of fetuses with cystic hygroma colli have monosomy X9,11,13,17. Only one of every 150 fetuses with Turner"s syndrome do not undergo a spontaneous abortion 18. Cystic hygroma colli may also occur as a manifestation of other chromosomal anomalies, especially trisomies 21, 18, and 13, which account for 10%-15% of cases with cystic hygroma colli3,13,15,19. Furthermore, 15%-25% of fetuses with cystic hygroma colli have a normal karyotype, which does not imply good prognosis11. Risk of recurrence The risk of recurrence for aneuploidy is low, but cystic hygroma colli with a normal karyotype may be inherited as an autosomal recessive trait with 25% recurrence 9,10,13,15. Biochemical anomalies Elevated levels of amniotic fluid alpha-fetoprotein occur in 40%-50% of cases with cystic hygroma colli, probably on the basis of (a) sampling the hygroma fluid, (b) transudation of alpha-fetoprotein through the thin membrane covering the cystic hygroma colli, or (c) imminent fetal death. Concomitant cystic hygroma colli and neural tube defect or an terior abdominal wall defect is rare. Acetylcholinesterase activity can be absent in amniotic fluid but present in fluid aspirated from the cystic hygroma colli. Measurement of alkaline phosphatase isoenzyme may distinguish cystic hygroma colli fluid which has no intestinal isoenzyme from amniotic fluid which contains approximately 80% intestinal enzymes during the second trimester 20. Diagnosis The diagnosis of cystic hygroma colli relies on the demonstration of cystic structures using ultrasonography, usually located in the occipito-cervical region3,6,8,9, 11,12,19.21. Usually it is detected on routine ultrasonic examination during the second trimester22. Although it has been detected as early as 12 weeks" gestation, the mean age of diagnosis is approximately 19 weeks9,18,23,24,25. The finding may regress and disappear later in gestation26,27.

These lesions have a typical honeycomb appearance due to the presence of multiple septa (fig. 1). Large lesions are usually characterized by a thick septum dividing the cyst along the anteroposterior axis, the sonographic counterpart of the nuchal ligament. The ultrasound of cystic hygroma colli typically shows asymmetric, thin-walled, multiseptate, cystic masses of the posterolateral aspects of the neck (fig. 2), but cystic hygroma colli may localize anteriorly or extend into the axilla or mediastinum (p 2281-1-8). The loculations range in size but in 85% of cases are as large or larger than the head. Identification of the midline septation extending from the posterior neck and representing the nuchal ligament outlined by bilateral cysts constitutes the most characteristic feature for the diagnosis of cystic hygroma colli.

Differential diagnosis Fetal neck hemangioma may produce similar picture but the cysts are thick walled, contain low level echos, and the lesion extend into the thorax and upper abdomen, but their distinction from cystic hygroma colli is quite subtle28. Occasionally, a cystic hygroma colli may mimic a cervical meningocele or low occipital encephalocele, but identification of the characteristic nuchal ligament in the absence of spinal dysraphism or calvarial defect discriminates cystic hygroma colli from a neural tube defect12,29. Other conditions which may potentially mimic a cystic hygroma colli, include a segment of umbilical cord behind the neck, prominent fetal hair, a pocket of amniotic fluid temporarily trapped against the neck and adjacent subchorionic cyst30. Sonographic examination should diagnose cystic hygroma colli reliably and accurately in virtually all cases during the second trimester of pregnancy (Table 3).