title: [Nodular eyelid margin and lip tumors without MEN2b syndrome in a 29 year old man].
abstract: Neuromas of the eyelid margin and lower lip were diagnosed in a 29-year-old man. As the combination of these lesions is indicative of multiple endocrine neoplasia type 2b (MEN2b) syndrome, the presence of a medullary thyroid carcinoma or a pheochromocytoma were excluded by a systematic work-up. A mutation in the RET proto-oncogene was not found by genetic testing. In summary, the patient presented with neuromas on the eyelid margin and lower lip without an association to a syndrome; however, patients with such neuromas should be screened for MEN2b syndrome due to the high mortality.
authors.affiliation: Universitäts-Augenklinik Bonn, Ernst-Abbe-Str. 2, 53127, Bonn, Deutschland. Martina.Herwig@ukb.uni-bonn.de.
authors.forename: M C
authors.initials: MC
authors.lastname: Herwig
authors.affiliation: Zentrum Medizinische Genetik, Universitätsklinikum Bonn, Bonn, Deutschland.
authors.forename: M
authors.initials: M
authors.lastname: Kreiß
authors.affiliation: Heinz-Werner-Seifert-Institut für Dermatopathologie Bonn, Bonn, Deutschland.
authors.forename: M
authors.initials: M
authors.lastname: Majores
authors.affiliation: Universitäts-Augenklinik Bonn, Ernst-Abbe-Str. 2, 53127, Bonn, Deutschland.
authors.forename: K U
authors.initials: KU
authors.lastname: Loeffler
authors.affiliation: Heinz-Werner-Seifert-Institut für Dermatopathologie Bonn, Bonn, Deutschland.
authors.forename: E
authors.initials: E
authors.lastname: Bierhoff
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005142:Eyelid Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008048:Lip Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics; D009463:Neuroma / Q000175:diagnosis* / Q000235:genetics*; D000090063:Proto-Oncogene Mas
keywords: Eyelid; MEN2b syndrome; Neuroma; Pheochromocytoma; Thyroid carcinoma