Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.10.2 (focal adhesion kinase)
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Genital elephantiasis (esthiomene), which is the dramatic end-result of lymphatic obstruction, is rather rare. Although mainly associated with filariasis and sexually transmitted diseases, such as lymphogranuloma venereum and donovanosis, it could also be an uncommon complication of tubercular lymphadenitis, a common infection in tropical countries. We report a rare case of a 32-year-old Indian female in whom genital elephantiasis occurred as a complication of tubercular lymphadenitis.
Int J STD AIDS 2002 Jun
PMID:Genital elephantiasis. 1201 20

Genital elephantiasis is an important medical problem in the tropics. It usually affects young and productive age group, and is associated with physical disability and extreme mental anguish. The majority of cases are due to filariasis; however, a small but significant proportion of patients develop genital elephantiasis due to bacterial sexually transmitted infections (STIs), mainly lymphogranuloma venereum (LGV) and donovanosis. STI-related genital elephantiasis should be differentiated from elephantiasis due to other causes, including filariasis, tuberculosis, haematological malignancies, iatrogenic, or dermatological diseases. Laboratory investigations like microscopy of tissue smear and nucleic acid amplification test for donovanosis, and serology and polymerase chain reaction for LGV may help in the diagnosis, but in endemic areas, in the absence of laboratory facilities, diagnosis largely depends on clinical characteristics. The causative agent of LGV, Chlamydia trachomatis serovar L1-L3, is a lymphotropic organism which leads to the development of thrombolymphangitis and perilymphangitis, and lymphadenitis. Long-standing oedema, fibrosis and lymphogranulomatous infiltration result in the final picture of elephantiasis. Elephantiasis in donovanosis is mainly due to constriction of the lymphatics which are trapped in the chronic granulomatous inflammatory response generated by the causative agent, Calymmatobacterium (Klebsiella) granulomatis. The LGV-associated genital elephantiasis should be treated with a prolonged course of doxycycline given orally, while donovanosis should be treated with azithromycin or trimethoprim-sulphamethoxazole combination given for a minimum of three weeks. Genital elephantiasis is not completely reversible with medical therapy alone and often needs to be reduced surgically.
Int J STD AIDS 2006 Mar
PMID:Genital elephantiasis and sexually transmitted infections - revisited. 1651

A clinical and investigational study of 25 cases of Donovanosis was undertaken. The incidence was found to be 1.53% of all STD cases and 2.9% of GUD. M:F ratio was 2.12:1. Incidence was more in unmarried people. Fleshy exuberant type was seen in 88% of cases. Two patients (8%) had extragenital ulcers. Donovan bodies were found in 88%. Pseudo elephantiasis was seen in 8 patients. Biopsy was done in 8 cases and showed acanthosis, plasma cell infiltration and pseudo epitheliomatous hyperplasia. One patient developed squamous cell carcinoma of vulva.
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PMID:A clinical and investigational study of donovanosis. 1764 66

Genital elephantiasis is a disease that is characterized by massive enlargement of the genitalia. Early aetiological diagnosis is of paramount importance so that development of genital elephantiasis can be prevented; otherwise it is not completely reversible with medical therapy and often requires surgical intervention. Chronic mental distress and disability can result as it interferes with daily/routine activities of the affected individual. Over time, the infectious causes of genital elephantiasis have evolved, from syphilis in the pre-penicillin era to donovanosis, lymphogranuloma venereum and recently filariasis, tuberculosis, leishmaniasis, HIV and chromoblastomycosis. With a declining prevalence globally, donovanosis is at risk of being forgotten as a cause of genital swelling; however, it is known to persist for years without treatment and can lead to complications such as lymphoedema and genital mutilation. We herein present a case of genital elephantiasis that was eventually diagnosed as being due to donovanosis.
Int J STD AIDS 2012 Nov
PMID:Genital elephantiasis due to donovanosis: forgotten but not gone yet ... 2315 9