Life-Threatening Cutaneous Bleeding in Childhood Klippel-Trenaunay Syndrome Treated With Oral Sirolimus | Dermatology | JAMA Dermatology | JAMA Network
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Observation
September 2016

Life-Threatening Cutaneous Bleeding in Childhood Klippel-Trenaunay Syndrome Treated With Oral Sirolimus

Author Affiliations
  • 1Department of Dermatology, Saint-Eloi Hospital, University Hospital of Montpellier, Montpellier, France
  • 2University of Montpellier, Montpellier, France
  • 3INSERM U1058, Montpellier, France
  • 4Department of Radiology, Lapeyronie Hospital, University Hospital of Montpellier, Montpellier, France
  • 5Department of Pediatric Infantile Surgery, Lapeyronie Hospital, University Hospital of Montpellier, Montpellier, France
  • 6Department of Internal Medicine, Saint-Eloi Hospital, University Hospital of Montpellier, Montpellier, France
  • 7Department of Pediatric Oncology and Hematology, Arnaud de Villeneuve Hospital, University Hospital of Montpellier, Montpellier, France
JAMA Dermatol. 2016;152(9):1058-1059. doi:10.1001/jamadermatol.2016.1008

Klippel-Trenaunay syndrome (KTS) is characterized by the triad of cutaneous capillary malformations (port-wine stains), asymmetrical disturbed growth of soft tissues and/or bone, and venous and lymphatic malformations.1 Prolonged and recurrent cutaneous bleeding from ulceration of the capillary and/or venous and/or lymphatic malformation can be life-threatening.2 We report for the first time to our knowledge a case of Klippel-Trenaunay syndrome treated by oral sirolimus.

A 13-month-old boy from Conakry, Guinea, was referred for assessment of recurrent cutaneous bleeding of the right lateral thigh complicated by chronic anemia. The parents had noted bleeding, either spontaneous or during dressing change, for 2 months despite the application of hemostatic dressings. Physical examination revealed a hypertrophic lower right limb with multiple port-wine stains centered by tumefactions 2 to 13 cm long composed of grouped hemorrhagic vesicles and crust (Figure 1A). Laboratory investigations revealed the following: hemoglobin level, 8.8 g/dL (normal range [NR], 10-14 g/dL), hematocrit, 29% (NR, 30%-42%), platelet count of 403 × 103/μL (NR, 150 × 103/μL to 400 × 103/μL), fibrinogen, 30 mg/dL (NR, 150-400 mg/dL), and D-dimer, greater than 4 μg/mL (NR, <0.5 μg/mL ). (To convert fibrinogen to micromoles per liter, multiply by 0.0294; D-dimer to nanomoles per liter, multiply by 5.476.) Magnetic resonance imaging (MRI) of the right leg showed a microcystic lymphatic malformation with muscular infiltration of the posterior compartment of the thigh and hypoplasia of the deep veins associated with a persistent embryonic lateral marginal vein of the thigh (Figure 2A). A diagnosis was made of KTS complicated by chronic cutaneous bleeding induced by extensive microcystic lymphatic cutaneous malformation and lateral thigh vein. Due to the partially atretic deep venous system and the extensive muscular infiltration of the lymphatic malformation, treatment by surgery, sclerotherapy, catheter embolization, and compression were ruled out. Photocoagulation using the Nd:YAG or fractional carbon dioxide laser was infeasible due to the need for multiple sessions under general anesthesia and the risk of recurrence.

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