Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by ichthyosis, spastic diplegia and mental retardation. Biochemical studies have pinpointed the pathogenesis resulting in the deficiency of the fatty aldehyde dehydrogenase (FALDH) component of the fatty alcohol NAD+ oxidoreductase complex. Histochemical analysis revealed a reduction in alcohol dehydrogenase (AD) activity in the skin. SLS patients have been categorized biochemically into two groups: complete and incomplete reduction according to the degree of FALDH deficiency. Our patients demonstrated incomplete clinical features, including a 1/3 reduction in FALDH activity, and decreased AD activity in the ichthyotic lesion. The phenotypical differences between our cases and classic SLS are probably due to the partial FALDH deficiency.
Although new strategies such as foam sclerotherapy and endovenous laser ablation have been introduced for surgery of the incompetent great saphenous vein, the stripping is still performed as a standard and established treatment. Recently, a new device, named InvisiGrip TM Vein Stripper, has been developed for the surgery. We have first introduced InvisiGrip TM Vein Stripper in Japan and have reported our initial experience. In this review, we briefly describe the charecteristics and outcomes of the surgery with InvisiGrip TM Vein Stripper in our varicose vein center.
A 73-year-old woman visited our vein center complaining of right ankle pain. Duplex ultrasonography revealed superficial thrombophlebitis on the right ankle, with asymptomatic deep vein thrombosis in the right soleal veins. A computed tomography scan showed multiple thrombi in bilateral pulmonary arteries. She underwent anti-coagulation therapy with edoxaban as well as elastic compression stockings. Blood examination did not show any coagulation profile disorders (i.e., antithrombin deficiency, protein C deficiency, protein S deficiency, or antiphospholipid syndrome). Since the cause of venous thromboembolism (VTE) was unknown, we suspected her hypercoagulable state due to malignancy. After whole body examination, colonoscopy finally exhibited a colon carcinoma in the hepatic flexure. She underwent right colectomy with lymph node dissection under laparoscopic assistance. After 1-year follow-up, there were no recurrences either of malignancy or VTE.
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