Klippel Trenaunay Syndrome: A New description...Submit your Manuscript | MedRead J Fam Med 1(1):...
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Citation: Laamari K*, Baybay H, Douhi Z, Mrabat S, Elloudi S and Mernissi FZ. Klippel Trenaunay Syndrome: A New description. MedRead J Fam Med. 2020; 1(1):1005 MedRead J Fam Med - Volume 1 Issue 1 - 2020 | www.med-read.org Kaoutar Laamari, et al. © All rights are reserved MedRead Journal of Family Medicine Case Report Klippel Trenaunay Syndrome: A New description Introduction Klippel-Trenaunay syndrome represents a vascular malformation combined with congenital disorder whose expression varies from subject to another. is affection, although rare, represents the most common of angio-osteo-hypertrophic syndroms, by associating an extended angioma, monomelic gigantism. e pathophysiology and etiopathogenesis of this syndrome are not yet well established, with several controversial theories [1]. We report a case of Klippel Trenaunay Syndrome. Case Report A mother comes to our department for an evaluation because her right leg and arm are becoming erythematous since the age of 20. History reveals that the patient was born with a palepink mark over her right thigh that has darkened with time. e patient did not walk until 16 months. At the dermatologic examination, we found multiple angiomatous plaques in the trunk, back and the right lower limb, and hypertrophic limb. e patient was pregnant at the time. Discussion Klippel-Trenaunay syndrome is a rare disease, with estimates of approximately 1 per 30, 000live births [2]. It is characterized by the following triad of features: cutaneous capillary malformations [usually port wine stains], which frequently are located laterally, need not extend over the entire affected limb, and may be found Laamari K*, Baybay H, Mrabat S, Douhi Z, Elloudi S and Mernissi FZ Department of Dermatology Venerology, University Hospital Hassan II, Fez, Morocco. * Corresponding author: Kaoutar Laamari, MD, Department of Dermatology Venerology, University Hospital Hassan II, Fez, Morocco Received: March 14, 2020 Accepted: March 29, 2020 Published: April 02, 2020 Abstract Klippel-Trenaunay syndrome is a rare disease, It is characterized by the following triad of features: cutaneous capillary malformations, soft tissue or bony hypertrophy (or both); and varicose veins or venous malformations. Here we report a new case of this syndrome. Keywords: Klippel Trenaunay; Vascular; Malformation at sites other than the hypertrophied limb; soſt tissue or bony hypertrophy [or both]; and varicose veins or venous malformations, oſten with persistent lateral embryologic veins [3]. Usually findings are isolated to one extremity; however, multiple extremities, unilateral, and even whole body involvement have been reported. While the leg is the most commonly affected site, the arms, trunk, and rarely the head and neck may also be involved [4]. Most patients exhibit the triad of Klippel—Trenaunay syndrome; however, Klippel—Trenaunay syndrome can be diagnosed on the basis of any 2 of these 3 features. In the majority of cases, at least one of the findings is noted shortly aſter birth, with the remaining features becoming evident as the patient begins to stand and ambulate [5]. e etiology of the disease is still under investigation, but it is well accepted that venous abnormalities are not the causative insult. Embryonic mesodermal changes resultingin increased angiogenesis lead to increased vascular flow causing tissue hypertrophy andvascular changes. Most experts agree that the majority of cases are due to sporadicpolygenic mutations [6, 7]. A single treatment plan is not recommended, a multidisciplinary approach to treatment and prevention of possible complications of KTS including paediatrician, internist, phlebologist, paediatric, orthopaedic, plastic and vascular surgeons, an interventional radiologist, cardiologist or vascular internist and a physical therapy physician provides optimal care for the patient [8]. Conclusion Klippel-Trenaunay syndrome is a rare disease of the vascular and lymphatic systemoſten presenting with a characteristic “nevus flammeus, ” or capillary malformation at birth.Vascular malformations and growth abnormalities usually occur in the lower extremities and on the same side of the body. ese can lead to hypertrophy of both bony and soſttissues, with hypotrophy being less common. Most cases are difficult to treat due to high rates of recurrence, but individualized intervention can help manage pain and help prevent serious complications.
Transcript of Klippel Trenaunay Syndrome: A New description...Submit your Manuscript | MedRead J Fam Med 1(1):...
Citation: Laamari K*, Baybay H, Douhi Z, Mrabat S, Elloudi S and Mernissi FZ. Klippel Trenaunay Syndrome: A New description. MedRead J Fam Med. 2020; 1(1):1005
MedRead J Fam Med - Volume 1 Issue 1 - 2020| www.med-read.org Kaoutar Laamari, et al. © All rights are reserved
MedRead Journal of Family Medicine
Case Report
Klippel Trenaunay Syndrome: A New description
IntroductionKlippel-Trenaunay syndrome represents a vascular malformation combined with congenital disorder whose expression varies from subject to another.
This affection, although rare, represents the most common of angio-osteo-hypertrophic syndroms, by associating an extended angioma, monomelic gigantism.
The pathophysiology and etiopathogenesis of this syndrome are not yet well established, with several controversial theories [1].
We report a case of Klippel Trenaunay Syndrome.
Case ReportA mother comes to our department for an evaluation because her right leg and arm are becoming erythematous since the age of 20. History reveals that the patient was born with a palepink mark over her right thigh that has darkened with time. The patient did not walk until 16 months.
At the dermatologic examination, we found multiple angiomatous plaques in the trunk, back and the right lower limb, and hypertrophic limb. The patient was pregnant at the time.
DiscussionKlippel-Trenaunay syndrome is a rare disease, with estimates of approximately 1 per 30, 000live births [2].
It is characterized by the following triad of features: cutaneous capillary malformations [usually port wine stains], which frequently are located laterally, need not extend over the entire affected limb, and may be found
Laamari K*, Baybay H, Mrabat S, Douhi Z, Elloudi S and Mernissi FZ
Department of Dermatology Venerology, University Hospital Hassan II, Fez, Morocco.
*Corresponding author: Kaoutar Laamari, MD, Department of Dermatology Venerology, University Hospital Hassan II, Fez, Morocco
Received: March 14, 2020
Accepted: March 29, 2020
Published: April 02, 2020Abstract
Klippel-Trenaunay syndrome is a rare disease, It is characterized by the following triad of features: cutaneous capillary malformations, soft tissue or bony hypertrophy (or both); and varicose veins or venous malformations.
Here we report a new case of this syndrome.
Keywords: Klippel Trenaunay; Vascular; Malformation
at sites other than the hypertrophied limb; soft tissue or bony hypertrophy [or both]; and varicose veins or venous malformations, often with persistent lateral embryologic veins [3]. Usually findings are isolated to one extremity; however, multiple extremities, unilateral, and even whole body involvement have been reported. While the leg is the most commonly affected site, the arms, trunk, and rarely the head and neck may also be involved [4]. Most patients exhibit the triad of Klippel—Trenaunay syndrome; however, Klippel—Trenaunay syndrome can be diagnosed on the basis of any 2 of these 3 features. In the majority of cases, at least one of the findings is noted shortly after birth, with the remaining features becoming evident as the patient begins to stand and ambulate [5].
The etiology of the disease is still under investigation, but it is well accepted that venous abnormalities are not the causative insult. Embryonic mesodermal changes resultingin increased angiogenesis lead to increased vascular flow causing tissue hypertrophy andvascular changes. Most experts agree that the majority of cases are due to sporadicpolygenic mutations [6, 7].
A single treatment plan is not recommended, a multidisciplinary approach to treatment and prevention of possible complications of KTS including paediatrician, internist, phlebologist, paediatric, orthopaedic, plastic and vascular surgeons, an interventional radiologist, cardiologist or vascular internist and a physical therapy physician provides optimal care for the patient [8].
ConclusionKlippel-Trenaunay syndrome is a rare disease of the vascular and lymphatic systemoften presenting with a characteristic “nevus flammeus, ” or capillary malformation at birth.Vascular malformations and growth abnormalities usually occur in the lower extremities and on the same side of the body. These can lead to hypertrophy of both bony and softtissues, with hypotrophy being less common. Most cases are difficult to treat due to high rates of recurrence, but individualized intervention can help manage pain and help prevent serious complications.
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Figure 1 : Multiple angiomatous plaques in the trunk, back and the right lower limb, and hypertrophic limb.
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3. Jacob AG, Discoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel–Trenaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73(1):28-36.
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6. Oduber CEU, van der Horst CMAM, Hennekam RCM. Klippel-Trenaunay syndrome: diagnostic criteriaand hypothesis on etiology.Ann Plast Surg.2008;60(2):217-23.7.
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8. Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology. 2007;22:291–298.
