Images in vascular medicine. 'Ski-jump' toenails--a phenotypic manifestation of primary lymphedema.
نویسنده
چکیده
A 42-year-old male with long-standing lymphedema presented to discuss therapeutic options for increasing leg swelling. His lymphedema began spontaneously in his midteens and asymmetrically involved both legs. No family history of lymphedema existed. Physical examination was remarkable for minimally pitting bilateral lymphedema extending from the toes to the upper calves. His toenails were diffusely hypoplastic with up-turned concavity consistent with ‘ski-jump’ nails (Panels A and B). This unique ungual appearance is reported to occur in 10–15% of patients with Milroy disease or ‘Milroy-like’ lymphedema.1 Although this subject had primary lymphedema, his age of
منابع مشابه
A novel VEGFR3 mutation causes Milroy disease.
Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are typically characterized by congenital onset of lymphedema of the lower limbs due to hypoplasia of the lymphatic vessels. The genetic basis of most cases of Milroy disease has not been established, although mutations in the vascu...
متن کاملFalse positive lower limb lymphoscintigraphy due to inadvertent intra-vascular injection of the tracer: Importance of tracer re-injection
We presented a 30 year-old woman presented with symmetrical swelling of the lower limbs since 5 years ago with sparing of the feet. She was highly suspicious of having lipoedema and was referred for lower limb lymphoscintigraphy to rule out possible lymphedema. Lymphoscintigraphy images showed asymmetrical injection sites and unusually high liver and spleen uptake. Inguinal nodes was not visual...
متن کاملPrimary Congenital Lymphedema in the Upper Limbs of Children: Case Series
The aim of the present study was to report a case series involving the treatment of primary congenital lymphedema using the Godoy method. Eight children (seven girls and one boy) with primary congenital lymphedema of the upper limbs treated at the Godoy Clinic. A retrospective clinical trial was conducted to evaluate treatment for primary congenital l...
متن کاملLymphedema: classification, diagnosis and therapy.
This review presents the diagnostic features, the pathophysiology and the available therapies for lymphedema. This disease is often able to be diagnosed by its characteristic clinical presentation, yet, in some cases, ancillary tests might be necessary to establish the diagnosis, particularly in the early stages of the disease and in edemas of mixed etiology. These diagnostic modalities are als...
متن کاملUse of Oral Sirolimus in Paediatric Patients with Serious Vascular Anomalies: Case Report
Background Pediatric vascular anomalies comprise a heterogeneous group of clinical disorders of varying severity. These anomalies are divided into vascular tumors or vascular malformations. Different therapeutic strategies have been used depending on the pathology in question. In recent years, mammalian target of rapamycin (mTOR) inhibitors have been explored as a therapeutic option in patients...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Vascular medicine
دوره 20 3 شماره
صفحات -
تاریخ انتشار 2015