Cystic hygroma
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Cystic hygroma (CH), also known as cystic lymphangioma, is a benign cystic lesion of the lymphatic system that most commonly affects the head and neck region in children. It presents as soft, painless masses of cysts and can cause complications if it impinges on surrounding structures. Treatment involves complete surgical excision when possible, though this is not always feasible due to the involvement of critical structures. Other options include sclerotherapy or watchful waiting for asymptomatic cases. CH is associated with genetic conditions like Down syndrome and its cause involves abnormalities in lymphatic development and connections.
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Cystic hygroma
- 2. 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
- 3. EPIDEMIOLOGY • THE INCIDENCE OF CH IS ESTIMATED TO BE 1 CASE PER 6,000-16,000 LIVE BIRTHS. • MORTALITY AS HIGH AS 2-6% IN SOME SERIES SECONDARY TO PNEUMONIA, BRONCHIECTASIS, AND AIRWAY COMPROMISE IN THE LARGER-SIZED LESIONS. • MORBIDITY DEPENDS ON THE ANATOMIC LOCATION OF THE CH RELATED TO COSMETIC DISFIGUREMENT AND IMPINGEMENT ON OTHER CRITICAL STRUCTURES SUCH AS NERVES, VESSELS, LYMPHATICS, AND THE AIRWAY.
- 4. CONT’D • NO RACIAL PREDOMINANCE • THE SEX DISTRIBUTION IS EQUAL. • 50-65% ARE EVIDENT AT BIRTH, WITH 80-90% OF CHS PRESENTING BY AGE 2 YEARS. • CH CAN BE VISUALIZED USING ABDOMINAL ULTRASONOGRAPHY BY 10 WEEKS GESTATION • 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.
- 6. 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,KLINEFELTER SYNDROME, AND TRISOMY 18 AND 13, ALTHOUGH THESE ARE NOT CONSIDERED A CAUSE. • IN ADDITION, SEVERAL NONCHROMOSOMAL DISORDERS, INCLUDING NOONAN 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
- 7. 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, • 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.
- 8. CONT’D • 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 LYMPHANGIOMA ENLARGEMENT IS RELATED MORE TO ENGORGEMENT THAN TO ACTUAL CELL PROLIFERATION. • MOLECULAR STUDIES VASCULAR ENDOTHELIAL GROWTH FACTOR C (VEGF-C) AND ITS RECEPTORS MAY PLAY AN IMPORTANT ROLE IN THE DEVELOPMENT OF LYMPHATIC MALFORMATIONS . • LYMPHANGIOMAS CAN BE ACQUIRED TRAUMA (INCLUDING SURGERY), INFLAMMATION, OR OBSTRUCTION OF A LYMPHATIC DRAINAGE PATHWAY.
- 9. PRESENTATION • HISTORY • SIGNS AND SYMPTOMS VARY DEPENDING ON THE LESION'S LOCATION. • THE MICROCYSTIC FORM 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. • TYPICALLY LARGE AND THICK WALLED CYSTS AND HAVE LITTLE INVOLVEMENT OF SURROUNDING TISSUE.
- 10. CONT’D • HISTORY: • 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 SPACE-OCCUPYING LESIONS OF THE SUPRAGLOTTIS OR PARAGLOTTIC REGION.
- 11. CONT’D • HISTORY • 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, POTENTIAL LYMPHANGIOMA. • THIS IS ESPECIALLY TRUE WHEN THE LESION AFFECTS STRUCTURES OF THE UPPER AERODIGESTIVE TRACT
- 12. CONT’D • PHYSICAL FINDINGS MAY INCLUDE THE FOLLOWING: • CHS ARE TYPICALLY SOFT, PAINLESS, COMPRESSIBLE (DOUGHY) MASSES. • A CH TYPICALLY TRANSILLUMINATES. • 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.
- 14. WORKUP • LABORATORY STUDIES • STUDIES HAVE SUGGESTED THAT FLUORESCENT IN SITU HYBRIDIZATION (FISH) CAN BE USED TO EVALUATE FOR CYSTIC HYGROMA (CH) IN PRENATAL CHROMOSOMAL ANALYSIS. CHROMOSOMES 13, 18, 21, X, AND Y ARE SPECIFICALLY MENTIONED
- 15. CONT’D • IMAGING STUDIES • MRI, CT SCANNING, AND ULTRASONOGRAPHY ARE ALL HELPFUL IN DELINEATING THE NATURE OF A CYSTIC NECK MASS. • CT SCANNING AND MRI REVEAL RING-LIKE MARGIN ENHANCEMENT WITH SHARP DEMARCATION OF CYSTIC AREAS. • THE CYSTIC AREAS TEND TO APPEAR CIRCUMSCRIBED AND DISCRETE. • A POORLY DEFINED ISODENSE MASS THAT OBSCURES MUSCLE AND FATTY PLANES IS MORE CONSISTENT WITH A MICROCYSTIC LYMPHATIC MALFORMATION THAN A CH.
- 16. CONT’D • IMAGING STUDY • MRI: • MRI IS THE CONSENSUS STUDY OF CHOICE. IT PROVIDES THE BEST SOFT TISSUE DETAIL AND CAN DELINEATE THE RELATIONSHIP OF THE LESION TO UNDERLYING STRUCTURES. • CONTRAST CAN BE USED TO DIFFERENTIATE HEMANGIOMAS FROM LYMPHANGIOMAS. ON MRI, CHS APPEAR HYPERINTENSE ON T2-WEIGHTED IMAGES AND HYPOINTENSE ON T1-WEIGHTED IMAGES. • CT SCANNING: • CT SCANNING IS FASTER AND MAY BE MORE READILY AVAILABLE THAN MRI. • CT SCANNING CARRIES THE RISK OF RADIATION EXPOSURE, AND DETAIL IS LOST IF THE CH IS SURROUNDED BY TISSUE OF SIMILAR ATTENUATION. • CONTRAST HELPS TO ENHANCE CYST WALL VISUALIZATION AND THE RELATIONSHIP TO SURROUNDING BLOOD VESSELS. ON CT SCANS, CHS APPEAR ISODENSE TO CEREBROSPINAL FLUID (CSF).
- 18. CONT’D • IMAGING STUDY • ULTRASONOGRAPHY: THIS IS THE LEAST INVASIVE STUDY. • IT IS VERY USEFUL IN DEMONSTRATING THE RELATIONSHIP OF CH TO THE SURROUNDING STRUCTURES. • ULTRASONOGRAPHY HAS LIMITED ABILITY IN ASSESSING MEDIASTINAL AND RETROPHARYNGEAL STRUCTURES. • IT CAN BE USED TO DETECT CH IN UTERO. • ECHOGRAPHIC VISUALIZATION OF MULTIPLE SEPTAE IN FETAL CH HAS BEEN POSTULATED TO BE A POOR PROGNOSTIC INDICATOR.
- 19. CONT’D • IMAGING STUDY • PLAIN RADIOGRAPHY: • WITH ANY LARGE MASS OF THE HEAD AND NECK, AIRWAY RADIOGRAPHY CAN BE HELPFUL IN DELINEATING POSSIBLE AIRWAY COMPROMISE. • PLAIN RADIOGRAPHY IS A REASONABLE INITIAL IMAGING MODALITY IN THE EVALUATION OF A NECK MASS WITH A POTENTIAL AIRWAY MANIFESTATION. • LYMPHOSCINTIGRAPHY: A CASE REPORT HIGHLIGHTED THE ABILITY TO VISUALIZE CH USING LYMPHOSCINTIGRAPHY.
- 20. STAGING • CLASSIFICATION HAS BEEN MARRED BY A HISTORICAL LACK OF CONFORMITY. • IN 1877, THE FIRST SYSTEM WAS PROPOSED BY WEGENER. • IN 1982, MULLIKEN AND GLOWACKI PRESENTED A CELL-BASED CLASSIFICATION THAT IS CURRENTLY USED BY MANY AUTHORS. • THEIR SYSTEM STRATIFIES LESIONS INTO HEMANGIOMAS OR VASCULAR MALFORMATIONS. • CHS FALL INTO THE LATTER CATEGORY. THE WORLD HEALTH ORGANIZATION (WHO) RECOGNIZES 3 TYPES OF LYMPHANGIOMAS: CAPILLARY, CAVERNOUS, AND CYSTIC.
- 21. CONT’D • CENTRAL IN A DISCUSSION OF CH IS THE UNDERSTANDING THAT IT IS SYNONYMOUS WITH MACROCYSTIC LYMPHATIC MALFORMATION AND CYSTIC LYMPHANGIOMA. • GIGUERE ET AL HAVE PROPOSED CATEGORIZATION OF LYMPHANGIOMAS BASED ON THE SIZE OF THE CYSTIC COMPONENT, AS FOLLOWS: • MACROCYSTIC - CYSTIC SPACES AT LEAST 2 CM • MICROCYSTIC - SPACES LESS THAN 2 CM • MIXED LESIONS
- 22. CONT’D • DE SERRES ET AL HAVE PROPOSED THE FOLLOWING SYSTEM FOR STAGING OF CH OF THE HEAD AND NECK: • STAGE I - UNILATERAL INFRAHYOID (17% COMPLICATION RATE) • STAGE II - UNILATERAL SUPRAHYOID (41% COMPLICATION RATE) • STAGE III - UNILATERAL AND BOTH INFRAHYOID AND SUPRAHYOID (67% COMPLICATION RATE) • STAGE IV - BILATERAL SUPRAHYOID (80% COMPLICATION RATE) • STAGE V - BILATERAL INFRAHYOID AND SUPRAHYOID (100% COMPLICATION RATE)
- 23. TREATMENT • MEDICAL CARE • ALTHOUGH SOME AUTHORS HAVE REPORTED WATCHFUL WAITING OF CYSTIC HYGROMA (CH), IT SHOULD BE CONSIDERED ONLY IN PATIENTS WHO ARE ASYMPTOMATIC. • THE MEDICAL TREATMENT OF CH CONSISTS OF THE ADMINISTRATION OF SCLEROSING AGENTS. • SCLEROSING AGENTS INCLUDE: • OK-432 (AN INACTIVE STRAIN OF GROUP A STREPTOCOCCUS PYOGENES), • BLEOMYCIN, • PURE ETHANOL, • SODIUM TETRADECYL SULFATE, • DOXYCYCLINE.
- 24. CONT’D • MEDICAL TREATMENT • AN INFECTED CH SHOULD BE TREATED WITH INTRAVENOUS ANTIBIOTICS, AND DEFINITIVE SURGERY SHOULD BE PERFORMED ONCE THE INFECTION HAS RESOLVED. • INCISION AND DRAINAGE OR ASPIRATION RESULTS IN ONLY TEMPORARY SHRINKAGE, AND SUBSEQUENT FIBROSIS CAN FURTHER COMPLICATE THE RESECTION. • RADIOTHERAPY HAS NOT BEEN DEMONSTRATED TO BE EFFECTIVE. • THE PREFERRED TREATMENT OF ALL CH IS SURGICAL RESECTION. ONLY RESECTION CAN TRULY OFFER THE POTENTIAL FOR CURE.
- 25. CONT’D • SURGICAL CARE • THE MAINSTAY OF TREATMENT IS SURGICAL EXCISION • BOTH THE OPERATING TEAM AND THE FAMILY OF THE PATIENT SHOULD GO FORWARD WITH THE KNOWLEDGE THAT CH IS A BENIGN LESION. • IF ACUTE INFECTION OCCURS PRIOR TO RESECTION, SURGERY SHOULD BE DELAYED AT LEAST 3 MONTHS. • THE SURGICAL TEAM SHOULD ATTEMPT TO COMPLETELY REMOVE THE LYMPHANGIOMA OR TO REMOVE AS MUCH AS POSSIBLE, SPARING ALL VITAL NEUROVASCULAR STRUCTURES. • COMPLETE EXCISION HAS BEEN ESTIMATED TO BE POSSIBLE IN ROUGHLY 40% OF CASES. • CHS ARE IDEALLY REMOVED IN ONE PROCEDURE BECAUSE SECONDARY EXCISIONS ARE COMPLICATED BY FIBROSIS AND DISTORTED ANATOMICAL LANDMARKS.
- 28. CONT’D • MICROCYSTIC LESIONS ARE MUCH MORE DIFFICULT TO REMOVE BECAUSE OF THEIR INTIMATE ASSOCIATION WITH NEARBY TISSUES. • LASER THERAPY IS A RECENT ADVANCEMENT IN THE TREATMENT OF MICROCYSTIC LESIONS. • THE EXCEPTIONS TO EXCISION AT THE TIME OF DIAGNOSIS ARE: • PREMATURE INFANTS • SMALL IN SIZE • INVOLVEMENT OF CRUCIAL NEUROVASCULAR STRUCTURES THAT ARE SMALL AND DIFFICULT TO IDENTIFY (EG, FACIAL NERVE).
- 29. CONT’D • IF NO AIRWAY OBSTRUCTION IS PRESENT, SURGERY CAN BE DELAYED UNTIL THE CHILD IS AGED 2 YEARS OR OLDER, ESPECIALLY WHEN OPERATING AROUND THE FACIAL NERVE IN THE PAROTID AREA. • SIGNS OF AIRWAY OBSTRUCTION REQUIRE SURGICAL EVALUATION AT THE TIME OF DIAGNOSIS. • IN EMERGENCY SITUATIONS, ASPIRATION WITH AN 18-GAUGE OR 20-GAUGE NEEDLE MAY OBVIATE THE NEED FOR AN EMERGENCY TRACHEOSTOMY.
- 30. CONT’D • ALTHOUGH TRADITIONAL WISDOM HAS DICTATED NOT ASPIRATING LYMPHATIC MALFORMATIONS, A STUDY BY BUREZQ ET AL DOCUMENTED SUCCESS WITH SERIAL ASPIRATION OF CH. • IN THEIR SERIES, 14 PATIENTS WERE TREATED WITH ASPIRATION ALONE (3 NEEDED MULTIPLE ASPIRATIONS), WITH A MEAN FOLLOW-UP OF 5.75 YEARS. • NO FAILURES WERE REPORTED. THIS TECHNIQUE MAY HOLD PROMISE FOR THE FUTURE MANAGEMENT OF CH. • OTHER AUTHORS CONTEND ASPIRATION HAS NO ROLE AND BELIEVE THAT ASPIRATION IS OFTEN FOLLOWED BY RECURRENCE, HEMORRHAGE, OR INFECTION. • RADIOFREQUENCY ABLATION HAS BEEN ADVOCATED FOR USE WITH INTRAORAL LYMPHATIC MALFORMATIONS, ESPECIALLY MICROCYSTIC LESIONS.
- 31. CONT’D • MAGNETIC RESONANCE–CONTROLLED LASER-INDUCED INTERSTITIAL THERMOTHERAPY IS A NOVEL THERAPY THAT HAS BEEN PROPOSED FOR TREATMENT OF LYMPHANGIOMAS. • CH CAN PRESENT ON ROUTINE PRENATAL ULTRASONOGRAPHY AS A LARGE OBSTRUCTING AIRWAY MASS, AS CAN OTHER PATHOLOGIC CONDITIONS SUCH AS A TERATOMA OR RHABDOMYOSARCOMA. • IF SUCH A MASS IS VISIBLE ON ULTRASONOGRAPHY, MRI SHOULD BE PERFORMED TO FURTHER DELINEATE THE MASS.
- 32. CONT’D • IN THESE CASES, A MULTISPECIALTY TEAM INCLUDING A HIGH-RISK OBSTETRICIAN, PEDIATRIC OTOLARYNGOLOGIST, PEDIATRIC SURGEON, AND NEONATOLOGIST SHOULD BE PRESENT AT THE EX UTERO INTRAPARTUM TREATMENT (EXIT) PROCEDURE. • A PLANNED CESAREAN DELIVERY IS PERFORMED, AND INTUBATION OR TRACHEOSTOMY IS USED TO ESTABLISH AN AIRWAY. • EXTRACORPORAL MEMBRANE OXYGENATION (ECMO) SHOULD ALSO BE AVAILABLE. EXCISION OF THE CH IS DELAYED UNTIL THE CHILD IS STABLE.
- 33. COMPLICATIONS • COMPLICATIONS INCLUDE AIRWAY OBSTRUCTION, HEMORRHAGE, INFECTION, AND DEFORMATION OF SURROUNDING BONY STRUCTURES OR TEETH IF LEFT UNTREATED. • COMPLICATIONS FROM THE SURGICAL EXCISION OF A CYSTIC HYGROMA (CH) ARE MYRIAD AND ARE RELATED TO THE LOCATION AND STRUCTURES ADJACENT TO THE MASS: • DAMAGE TO A NEUROVASCULAR STRUCTURE (INCLUDING CRANIAL NERVES), • CHYLOUS FISTULA, • CHYLOTHORAX, • HEMORRHAGE, • RECURRENCE. • MOST RECURRENCES OCCUR WITHIN THE FIRST YEAR BUT HAVE BEEN REPORTED TO OCCUR AS LONG AS 10 YEARS AFTER EXCISION.
- 34. PROGNOSIS • UNLIKE IN HEMANGIOMAS, SPONTANEOUS RESOLUTION OF CH IS UNCOMMON. • RECURRENCE IS RARE WHEN ALL GROSS DISEASE IS REMOVED. • IF RESIDUAL TISSUE IS LEFT BEHIND, THE EXPECTED RECURRENCE RATE IS APPROXIMATELY 15%. • IN PRENATAL CH, DIAGNOSIS AFTER 30 WEEKS' GESTATION IS CONSIDERED A POSITIVE PROGNOSTICATOR.
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