Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women.
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Epidermolytic hyperkeratosis (EHK) is a distinct pathologic entity that may present as a generalized congenital disorder. A localized form occurring only upon the female genitalia may not be well appreciated by clinicians dealing with women. EHK of the female genitalia is a rare diagnosis, with just 6 cases reported within the indexed literature. Clinically, it may resemble condyloma, although involvement of human papillomavirus has never been demonstrated. Providers unfamiliar with this entity may be further confused by reports of the histopathologic features. Herein, we describe a case and review the literature with respect to EHK of the female genitalia. Familiarity with this condition is desirable, as confusion with condyloma is likely, yet the prognosis is decidedly different. (+info)
Leech bite: a rare gynecologic emergency.
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Vaginal bleeding as the result of a leech bite is a rare occurrence. We report 2 cases of vaginal bleeding in young girls that resulted from a leech bite and required treatment. Clinical presentation and management for young girls is described. Health professionals working in rural areas where leech infestation is common should be aware that children are at risk for leech bites in the genital region; a high index of suspicion is of great help to make an early diagnosis and ensure prompt treatment. (+info)
Adenomyosis:common and uncommon manifestations on sonography and magnetic resonance imaging.
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OBJECTIVE: The purpose of this presentation is to show the imaging findings of the common and uncommon variants of adenomyosis as seen on sonography and magnetic resonance imaging (MRI). METHODS: A 3-year database search was performed to identify women who had pelvic sonography and pelvic MRI within a 6-month interval. Images of these cases were retrospectively reviewed. RESULTS: Eighty women were identified. Adenomyosis was diagnosed on MRI, which was used as the reference standard, in 45 of these women. The correct diagnosis was made on sonography in 73% of the cases. CONCLUSIONS: Awareness of the spectrum of imaging features of adenomyosis is important to use sonography effectively for diagnosing this entity and to help avoid misdiagnosis. (+info)
Breast carcinoma with metastasis to the gallbladder: an unusual case report with a short review of literature.
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Gallbladder metastases are very rare and usually arise from malignant melanoma, renal cell carcinoma and cervical carcinoma. Breast carcinoma metastatic to the gallbladder is extremely rare and only 4 cases have been reported in the English literature. We hereby report a 54-year-old lady who was diagnosed as having breast carcinoma and underwent modified radical mastectomy. One month after the operation, she developed acute abdominal pain and underwent cholecystectomy after clinical investigation. Histopathological examination revealed metastasis to the gallbladder. Being considered a patient with metastatic breast carcinoma she was subjected to taxane and anthracycline-based palliative chemotherapy. Later she had CNS involvement and died of the progressive disease soon after few months. (+info)
Thromboangiitis obliterans or Buerger's disease is a segmental occlusive inflammatory condition of arteries and veins, characterized by thrombosis and recanalization of the affected vessels. It is a non-atherosclerotic inflammatory disease affecting small and medium sized arteries and veins of upper and lower extremities. The clinical criteria include: age under 45 years; current or recent history of tobacco use; presence of distal-extremity ischemia indicated by claudication, pain at rest, ischemic ulcers or gangrenes and documented by non-invasive vascular testing; exclusion of autoimmune diseases, hypercoagulable states and diabetes mellitus; exclusion of a proximal source of emboli by echocardiography or arteriography; consistent arteriographic findings in the clinically involved and non-involved limbs. The disease is found worldwide, the prevalence among all patients with peripheral arterial disease ranges from values as low as 0.5 to 5.6% in Western Europe to values as high as 45 to 63% in India, 16 to 66% in Korea and Japan, and 80% among Ashkenazi Jews. The etiology of thromboangiitis obliterans is unknown, but use or exposure to tobacco is central to the initiation and progression of the disease. If the patient smokes, stopping completely is an essential first step of treatment. The effectiveness of other treatments including vasodilating or anti-clotting drugs, surgical revascularization or sympathectomy in preventing amputation or treating pain, remains to be determined. (+info)
Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
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Imerslund-Grasbeck syndrome (IGS) or selective vitamin B(12) (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B(12) deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B(12) therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. Anatomical anomalies in the urinary tract were observed in some Norwegian patients. Vitamin B(12) absorption tests show low absorption, not corrected by administration of intrinsic factor. The symptoms appear from 4 months (not immediately after birth as in transcobalamin deficiency) up to several years after birth. The syndrome was first described in Finland and Norway where the prevalence is about 1:200,000. The cause is a defect in the receptor of the vitamin B(12)-intrinsic factor complex of the ileal enterocyte. In most cases, the molecular basis of the selective malabsorption and proteinuria involves a mutation in one of two genes, cubilin (CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14. Both proteins are components of the intestinal receptor for the vitamin B(12)-intrinsic factor complex and the receptor mediating the tubular reabsorption of protein from the primary urine. Management includes life-long vitamin B(12) injections, and with this regimen, the patients stay healthy for decades. However, the proteinuria persists. In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency. (+info)
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.
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Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same cutaneous phenotype and predominantly left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome). Woolly hair appears from birth, palmoplantar keratoderma develop during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Patients present with syncope, sustained ventricular tachycardia or sudden death. Symptoms of right heart failure appear during the end stages of the disease. In the Carvajal variant the cardiomyopathy is clinically manifested during childhood leading more frequently to heart failure. Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease. Defects in the linking sites of these proteins can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium and fibro-fatty replacement. Implantation of an automatic cardioverter defibrillator is indicated for prevention of sudden cardiac death. Antiarrhythmic drugs are used for preventing recurrences of episodes of sustained ventricular tachycardia and classical pharmacological treatment for congestive heart failure, while heart transplantation is considered at the end stages. (+info)
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).
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The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. Serum levels of IgG, IgM, IgE, and/or IgA are low, although the type of immunoglobulin deficiency is variable. Recurrent infections are the presenting symptom, usually in early childhood. ICF always involves limited hypomethylation of DNA and often arises from mutations in one of the DNA methyltransferase genes (DNMT3B). Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. By an unknown mechanism, the DNMT3B deficiency that causes ICF interferes with lymphogenesis (at a step after class switching) or lymphocyte activation. With the identification of DNMT3B as the affected gene in a majority of ICF patients, prenatal diagnosis of ICF is possible. However, given the variety of DNMT3B mutations, a first-degree affected relative should first have both alleles of this gene sequenced. Treatment almost always includes regular infusions of immunoglobulins, mostly intravenously. Recently, bone marrow transplantation has been tried. (+info)