The diagnosis of kts is usually made when any two of the three features are present. The case is reported due to its rarity and unusual presentation. Klippeltrenaunay syndrome kts is a syndrome that affects the. Malformed veins and unusual overgrowth of bones and soft tissues are also present. Picture of skin diseases and problems emedicinehealth. Klippeltrenaunay syndrome kts is a rare disorder that is present at birth congenital and is characterized by a triad of cutaneous capillary malformation portwine stain, lymphatic anomalies, and abnormal veins in association with variable overgrowth of soft tissue and bone.
Klippeltrenaunay syndrome kts is a rare congenital syndrome of vascular malformations and soft tissue and bone hypertrophy. In the past, a number of different conditions have been lumped together under the moniker of kts, including parkes weber syndrome and diffuse capillary malformation with. Deep vein thrombosis and pulmonary embolism occurred in 5. Klippeltrenaunayweber syndrome, parkesweber syndrome.
Typical symptoms include hemangiomas abnormal benign growths on the skin consisting of masses of blood vessels and varicose veins. Klippeltrenaunay syndrome is a condition that affects the development of blood vessels, soft tissues such as skin and muscles, and bones. Klippeltrenaunay syndrome formerly klippeltrenaunayweber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels andor lymph vessels fail to form properly. This is a condition in which vascular malformations, varicosities, and phlebectasia cover an entire limb or other body area. Klippeltrenaunay syndrome pictures, treatment, radiology.
Hence, it is important to consider the differential diagnosis of this condition in adulthood as and when appropriate. Involvement of the gastrointestinal gi tract is uncommon in kts, but it can be a source of lifethreatening bleeding. Klippeltrenaunay and parkes weber klippeltrenaunayweber syndromes consist of vascular malformations of the capillary, venous and lymphatic systems combined with soft tissue and bone hypertrophy of the affected extremity. Management of a femoral diaphyseal fracture in a patient with klippel trenaunay weber syndrome.
In addi tion, the syndrome was associated with cutis laxa, a coincidence of some rarity. Lindenauer 1965 described a brother and sister with klippeltrenaunay syndrome. Servelle believes that deep vein abnormalities, with resultant. Klippeltrenaunay syndrome genetic and rare diseases. A 36 yrs old male patient presented with a 4 months history of a mass in neck along with a small swelling on the forearm from past several years. This is a condition in which vascular malformations, varicosities, and phlebectasia cover an entire limb or other. The three main features are nevus flammeus portwine stain, venous and lymphatic malformations, and softtissue hypertrophy of the. Klippeltrenaunay weber syndrome ktws, also known as angioosteohypertrophic syndrome is a rare condition and presents the main characteristics of cutaneous hemangiomas, the presence of varicose veins, and hyperplasia of the soft and hard tissues on different parts of the body.
Synopsis the combination of klippeltrenaunayweber syndrome ktws with intracranial vascular. It is considered an angioosteohypertrophic syndrome. The mortality rate of the syndrome is around 1%, but the rate of morbidity, or incidence of problems caused by the syndrome is very high. Klippeltrenaunay syndrome kts is a rare condition that is typically present at birth. Kts is the prototype of complex overgrowth disorder associated with vascular anomalies and is the. Klippeltrenaunayweber syndrome ktw, also known as parkesweber syndrome, is a blood vessel disorder that is present at birth. Originally described in 1900, klippeltrenaunay syndrome kts is a rare congenital malformation with an incidence of 1 out of 27,500 live births. Although these lesions often have irregular borders and merge with the surrounding renal. Researchers arent sure why it happens because it doesnt seem to be passed down genetically.
Klippeltrenaunay syndrome kts is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Vascular malformations can affect multiple organ systems. Pdf background klippeltrenaunayweber syndrome is a rare syndrome. The features of klippeltrenaunayweber syndrome are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. Klippel trenaunay weber syndrome ktws support group. The three main features are nevus flammeus portwine stain, venous and lymphatic malformations, and soft. Sonographic identification of klippeltrenaunayweber syndrome. Klippeltrenaunay kt syndrome is a sporadic syndrome of mesodermal origin, defined by a. Anesthesia for surgery related to klippeltrenaunay. Klippeltrenaunay syndrome kts is a complex congenital disorder that historically has been defined as the triad of capillary malformation, venous malformation, and limb overgrowth.
The exact cause of klippeltrenaunayweber syndrome ktws remains to be elucidated, although several theories exist. Klippeltrenaunay syndrome is a pure lowflow condition, while parkes weber syndrome is characterized by significant arteriovenous. Cranial ct and mr in the klippeltrenaunayweber syndrome. Bliznak and staple suggested intrauterine damage to the sympathetic ganglia or intermediolateral tract leading to dilated microscopic arteriovenous anastomoses as the cause. Klippeltrenaunay syndrome is a rare vascular malformation combining venous and lymphatic dysfunctions, oedema and limb overgrowth. He was operated upon and followed up for 2 years when ultimately he was cured. Since the late 20th century it is recognized that klippeltrenaunay and parkes weber syndromes are entirely different conditions. Klippeltrenaunay syndrome accompanied by the findings of. Thus, the term klippeltrenaunayweber syndrome is an inappropriate one. A combination of portwine stain and vascular malformations may be present from birth. Klippeltrenaunayweber syndrome with venous vascular malformation. Atypical presentation or a variant of klippeltrenaunay.
Because the blood, lymph, or combination of both can not flow properly it will collect in the affected limb. Ordinarily klippeltrenaunay syndrome is termed as birth mark. Klippeltrenaunay syndrome causing lifethreatening gi. Klippeltrenaunayweber syndrome with hemimegalencephaly.
Please note this group is set to public klippel trenaunay syndrome. Venules continue from the capillaries and merge to form veins. Klippeltrenaunayweber syndrome clinical presentation. What is the life expectancy of someone with klippel. Klippeltrenaunay syndrome kts is one of the rare congenital hyperplasia syndromes generally involving a single extremity. Klippeltrenaunay and sturgeweber overlapping syndrome in a. Klippel trenaunay syndrome kts is a rare, congenital, vascular disorder affecting one or more limbs. Sws should be distinguished from klippeltrenaunayweber syndrome in which extensive capillary angiomata associated with dysplastic veins involve the venous malformations syndromes with a venous anomaly include the blue rubber bleb nevus syndrome, maffucci syndrome, and klippel trenaunay syndrome. Listen to the audio pronunciation in the cambridge english dictionary.
The main features include a red birthmark portwine stain, overgrowth of tissues and bones, and vein. A a 25yearold woman with a congenital purple patch on her vulvae and new purple linear telangiectasias and nodular lesions gradually appearing in her left hip, genital area, leg, ankle and foot, and left side of her back over years. Omim entry % 149000 klippeltrenaunayweber syndrome. Klippeltrenaunay syndrome kts is a rare congenital syndrome characterized by ipsilateral cutaneous capillary malformations, venous varicosities, and bony.
Klippeltrenaunay syndrome, angioosteohypertrophy syndrome. Klippel trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues such as skin and muscles, and bones. Originally, it was defined as a triad including port wine stain, varicose veins and bony and. The syndrome klippel trenaunay weber syndrome or angiosteo hypertrophy syndrome is a strange congenital disease characterized by the presence of a nevus in the right member and big varicose veins. Later, the investigators parkes and weber described the accompanying. How to pronounce klippeltrenaunay syndrome in english. Klippel trenaunay weber syndrome ktws support group has 2,997 members.
Klippeltrenaunay syndrome genetics home reference nih. There may be associated skeletal abnormalities including macrodactyly and syndactyly. There was neither any bony involvement nor mental abnormality. Klippeltrenaunayweber syndrome affects both males and females. People who have the condition display a portwine stain birth mark thatusually covers part of a limb. Klippeltrenaunayweber syndrome is a rare cutaneous vascular disorder characterized by the presence of multiple hemangiomata, arteriovenous fistulas, and limb hypertrophy. We report the prenatal sonographic findings in a case of klippeltrenaunayweber ktw syndrome including fetal limb hypertrophy and large subcutaneous cystic lesions. The possibility of an atypical presentation or a variant of klippeltrenaunayweber syndrome. We report a case of a 32yearold male with a known diagnosis of kts. Problems that klippeltrenaunayweber patients experience include those associated with blood flow and lymph flow. This page includes the following topics and synonyms.
Klippeltrenaunay syndrome symptoms and causes mayo clinic. My name is lucy, im and when i was 9 i was diagnosed with klippel trenaunay weber syndrome and hemihyperplasia, this means my lymphatic system, bones and vains were not formed correctly and also one side of my body grows at a faster rate than the other, i have a port wine stain. The development of the marks occurs due to inflammation of the vein near the surface of the skin. Klippeltrenaunayweber syndrome mainly presents in infancy and childhood, however it has been reported to present in adults also. As a separate condition, also known as parkes webers syndrome limb enlargement with a highflow capillary malformation and arteriovenous fistula. Klippeltrenaunay syndrome nord national organization. Klippeltrenaunayweber syndrome ktws generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is the most common site followed by the arms, the trunk, and rarely the head and the neck.
A study from the netherlands, by horbach et al, found that 43% of pregnant women in the report with klippeltrenaunay syndrome experienced aggravation of the syndromes symptoms. Parkes weber syndrome is distinct from kts by the presence of arteriovenous malformation which indicates a bad prognosis. Fused toes or fingers, or extra toes or fingers, may be present. The disorder clinically resembles sturgeweber syndrome, and indeed the 2 have been associated in some cases harper, 1971. Klippeltrenaunayweber syndrome, hemimegalencephaly, neurocutaneous syndrome introduction klippeltrenaunayweber syndrome ktws, first described in 1900 by klippel and trenaunay 1, is a rare neurocutaneous syndrome. The medical community at times has confused the conditions klippeltrenaunay and parkes weber syndromes, using the term klippeltrenaunayweber syndrome. Sometimes called klippeltrenaunay weber syndrome, it has been suggested that this designation should be. The syndrome often involves port wine stains, excess growth of.
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