Genitourinary manifestations of Klippel–Trenaunay syndrome: Report of two cases managed with systemic α-interferon

Ahmed, Irfan; Aslam, Muhammad; Mahfooz, Ali Bin; Hanash, Kamal A.

doi:10.1080/00365590500342398

Cited by 4 publications

(4 citation statements)

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“…In terms of clinical manifestations, most reports have focused on bone and soft tissue involvement. Genitourinary involvement was reported in 9-30% of cases, and vulvar hemangioma is the most common gynecologic manifestation [1,9]. A six-year-old female patient with KTS with bloody vaginal discharge and swelling in the left inguinal region was reported [10].…”

Section: Discussionmentioning

confidence: 99%

Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome

2021

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Klippel-Trénaunay Syndrome (KTS) is a genetic vascular malformation involving the capillary, lymphatic, and venous channels. Prenatal sonographic diagnosis of KTS with an enlarged fetal limb is well-known; however, postnatal gynecologic manifestations are rarely reported. KTS can cause clitoromegaly, vulvovaginal hemangioma, and heavy menstrual bleeding. Somatic mosaicism of the PIK3CA gene is considered as responsible for KTS but reports based on whole-genome sequencing are limited. A 31-year-old woman with KTS presented with bulging of the clitoris and vagina. Analysis of whole-genome sequencing variant data revealed that gene ontology terms related to development and differentiation such as ‘skeletal system morphogenesis’, ‘embryonic morphogenesis’, and ‘sensory organ development’ were nominally significant in non-coding regions. Variants in non-coding genes may be responsible for this phenotype.

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Section: Discussionmentioning

confidence: 99%

Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome

2021

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“… 2 Endoscopic cauterization can be used for the management of bladder or urethral vascular malformations, and neodymium:YAG laser has good effects on vesical venous malformations. 13 In addition, arteriographic control, tranexamic acid, and interferon-alpha could be useful to treat hemorrhage and other coagulopathic complications. 13 Patients with KTS have a 50% risk for spontaneous venous thrombosis; regular aspirin, warfarin, and low-molecular-weight heparin therapy could be used, except during acute bleeding or surgical interventions.…”

Section: Discussionmentioning

confidence: 99%

“… 13 In addition, arteriographic control, tranexamic acid, and interferon-alpha could be useful to treat hemorrhage and other coagulopathic complications. 13 Patients with KTS have a 50% risk for spontaneous venous thrombosis; regular aspirin, warfarin, and low-molecular-weight heparin therapy could be used, except during acute bleeding or surgical interventions. 2 When vascular malformations affect intrapelvic or retroperitoneal areas or the hematuria is life-threatening, surgical treatments should be adopted, such as partial cystectomy, subtotal cystectomy, or enterocystoplasty using an ileocecal segment.…”

Section: Discussionmentioning

confidence: 99%

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Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report

et al. 2018

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IntroductionKlippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues.AimsTo report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome.MethodsOn presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded. After diagnosis and initial treatment, a literature review of the urethral features of KTS was performed and is discussed in this report.ResultsA 35-year-old man with KTS presented with painless urethral bleeding during penile erection that was associated with posterior urethral vascular malformations. The coagulation method was used to treat the malformation, and no urethral bleeding or gross hematuria occurred during a postoperative follow-up period of 6 months.ConclusionThis case demonstrates that coagulation therapy and careful follow-up can be adequate treatment approaches for urethral features of KTS. However, the long-term efficacy of coagulation for this disorder should be investigated further.Lei H, Guan X, Han H, et al. Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. Sex Med 2018;6:180–183.

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Klippel-Trenaunay Syndrome: Incidence and Treatment of Genitourinary Sequelae

2007

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The incidence of genitourinary manifestations of Klippel-Trenaunay syndrome is 30%, which is triple the previously reported incidence of 9%. Unlike prior reports stating that the genitourinary abnormalities rarely caused problems, 52% of the patients (34 of 66) with Klippel-Trenaunay syndrome who had urological manifestations eventually required interventional therapy for genitourinary complications.

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Genitourinary manifestations of Klippel–Trenaunay syndrome: Report of two cases managed with systemic α-interferon

Cited by 4 publications

References 10 publications

Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome

Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome

Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report

Klippel-Trenaunay Syndrome: Incidence and Treatment of Genitourinary Sequelae

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