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Wesseling P. - One of the best experts on this subject based on the ideXlab platform.
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Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?
2002Co-Authors: Donkelaar, H.j. Ten, Hamel B.c.j., Hartman E.h.m., Lier, J.a. Van, Wesseling P.Abstract:We present a case of a peculiar rudimentary occipital meningocele that was surgically removed when the patient (a boy) was 5 months of age. The patient also had distal transverse defects of both hands. The association of congenital scalp defects and distal congenital hand anomalies is relatively rare and one form is known as the Adams-Oliver syndrome. To our surprise, microscopic examination revealed intestinal mucosa on top of the Skin Tag containing the rudimentary meningocele. No comparable cases were found in the literature. We discuss the following possible explanations for this peculiar situation: 1) disorganization-like syndrome; 2) homeotic transformation; 3) abnormal surface encounter between the epidermis and remnants of the yolk sac or omphalo-enteric duct; and 4) endoectodermal adhesion in the presomite embryo
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Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?
'Ovid Technologies (Wolters Kluwer Health)', 2002Co-Authors: Donkelaar, H.j. Ten, Hamel B.c.j., Hartman E.h.m., Lier, J.a. Van, Wesseling P.Abstract:Item does not contain fulltextWe present a case of a peculiar rudimentary occipital meningocele that was surgically removed when the patient (a boy) was 5 months of age. The patient also had distal transverse defects of both hands. The association of congenital scalp defects and distal congenital hand anomalies is relatively rare and one form is known as the Adams-Oliver syndrome. To our surprise, microscopic examination revealed intestinal mucosa on top of the Skin Tag containing the rudimentary meningocele. No comparable cases were found in the literature. We discuss the following possible explanations for this peculiar situation: 1) disorganization-like syndrome; 2) homeotic transformation; 3) abnormal surface encounter between the epidermis and remnants of the yolk sac or omphalo-enteric duct; and 4) endoectodermal adhesion in the presomite embryo
Paul Fallah-wandalachi Nabieu - One of the best experts on this subject based on the ideXlab platform.
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Residual Skin Tags Following Procedure for Prolapse and Hemorrhoids: Differentiation from Recurrence
World journal of surgery, 2009Co-Authors: Xian Hua Gao, Paul Fallah-wandalachi NabieuAbstract:Purpose The aim of this study was to compare the incidence of recurrence and residual Skin Tag after the procedure for prolapse and hemorrhoids (PPH) versus conventional hemorrhoidectomy (CH) in the Chinese- and English-language literature to explore the definition of recurrence after PPH.
Thumuluru Kavitha Madhuri - One of the best experts on this subject based on the ideXlab platform.
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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, 2019Co-Authors: Anna Louise Russell, Ben Haagsma, Thumuluru Kavitha MadhuriAbstract: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.
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Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?
2002Co-Authors: Donkelaar, H.j. Ten, Hamel B.c.j., Hartman E.h.m., Lier, J.a. Van, Wesseling P.Abstract:We present a case of a peculiar rudimentary occipital meningocele that was surgically removed when the patient (a boy) was 5 months of age. The patient also had distal transverse defects of both hands. The association of congenital scalp defects and distal congenital hand anomalies is relatively rare and one form is known as the Adams-Oliver syndrome. To our surprise, microscopic examination revealed intestinal mucosa on top of the Skin Tag containing the rudimentary meningocele. No comparable cases were found in the literature. We discuss the following possible explanations for this peculiar situation: 1) disorganization-like syndrome; 2) homeotic transformation; 3) abnormal surface encounter between the epidermis and remnants of the yolk sac or omphalo-enteric duct; and 4) endoectodermal adhesion in the presomite embryo
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Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?
'Ovid Technologies (Wolters Kluwer Health)', 2002Co-Authors: Donkelaar, H.j. Ten, Hamel B.c.j., Hartman E.h.m., Lier, J.a. Van, Wesseling P.Abstract:Item does not contain fulltextWe present a case of a peculiar rudimentary occipital meningocele that was surgically removed when the patient (a boy) was 5 months of age. The patient also had distal transverse defects of both hands. The association of congenital scalp defects and distal congenital hand anomalies is relatively rare and one form is known as the Adams-Oliver syndrome. To our surprise, microscopic examination revealed intestinal mucosa on top of the Skin Tag containing the rudimentary meningocele. No comparable cases were found in the literature. We discuss the following possible explanations for this peculiar situation: 1) disorganization-like syndrome; 2) homeotic transformation; 3) abnormal surface encounter between the epidermis and remnants of the yolk sac or omphalo-enteric duct; and 4) endoectodermal adhesion in the presomite embryo
Konrad Oexle - One of the best experts on this subject based on the ideXlab platform.
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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, 2013Co-Authors: Nabeel J M Salem, Maja Hempel, Katrin-janine Heiliger, Stuart Hosie, Thomas Meitinger, Konrad OexleAbstract: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.
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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, 2013Co-Authors: Nabeel J M Salem, Maja Hempel, Katrin-janine Heiliger, Stuart Hosie, Thomas Meitinger, Konrad OexleAbstract: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.