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Wesseling P. - One of the best experts on this subject based on the ideXlab platform.

Paul Fallah-wandalachi Nabieu - One of the best experts on this subject based on the ideXlab platform.

Thumuluru Kavitha Madhuri - One of the best experts on this subject based on the ideXlab platform.

  • primary vaginal adenocarcinoma of intestinal type or occult metastatic colon cancer a diagnostic dilemma from a vaginal Skin Tag
    International Journal of Women's Health, 2019
    Co-Authors: Anna Louise Russell, Ben Haagsma, Thumuluru Kavitha Madhuri
    Abstract:

    The presentation of a new vaginal lesion could represent a variety of diagnoses from benign warts to more sinister primary malignancies. Rarely, a new lesion could represent a metastatic deposit from a malignancy elsewhere in the body. Colonic carcinomas are the third most common malignancy, frequently metastasising to the liver and lung. There have been a small number of cases in the literature reporting vaginal metastases from colonic carcinoma and this is usually indicative of advanced disseminated disease. We present an interesting case of a 65-year-old female with a strong family history of bowel cancer who originally presented with a vaginal Skin Tag that was biopsied and found to be a moderately differentiated adenocarcinoma. The immunohistochemistry profile was cytokeratin (CK) 20 positive/CK 7 negative, highly suggestive of a bowel cancer primary. However, subsequent extensive radiological and endoscopic investigations failed to identify a colonic primary tumor. The vaginal lesion was successfully excised, and no systemic treatments were warranted. To date, no primary cancer has been identified; the patient remains asymptomatic with no clinical signs of disease recurrence 5 years following her initial diagnosis. This case represents a diagnostic dilemma between two very rare diagnoses of either a vaginal metastasis from an occult colonic primary tumor or a primary vaginal adenocarcinoma of endometrioid morphology demonstrating intestinal immunophenotype. Organizing colonic screening is recommended in view of the high risk of colonic adenocarcinoma.

Donkelaar, H.j. Ten - One of the best experts on this subject based on the ideXlab platform.

Konrad Oexle - One of the best experts on this subject based on the ideXlab platform.

  • anal atresia coloboma microphthalmia and nasal Skin Tag in a female patient with 3 5 mb deletion of 3q26 encompassing sox2
    American Journal of Medical Genetics Part A, 2013
    Co-Authors: Nabeel J M Salem, Maja Hempel, Katrin-janine Heiliger, Stuart Hosie, Thomas Meitinger, Konrad Oexle
    Abstract:

    A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, Skin Tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32–3q26.33 (chr. 3: 178,598,162–182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia. © 2013 Wiley Periodicals, Inc.

  • Anal atresia, coloboma, microphthalmia, and nasal Skin Tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.
    American journal of medical genetics. Part A, 2013
    Co-Authors: Nabeel J M Salem, Maja Hempel, Katrin-janine Heiliger, Stuart Hosie, Thomas Meitinger, Konrad Oexle
    Abstract:

    A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, Skin Tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.