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Multiple endocrine neoplasia type 2b associated with lichen nitidus. 2007

Asli Altaykan, and Sibel Ersoy-Evans, and Serap Emre, and Diclehan Orhan, and Safak Güçer, and Gül Erkin
Hacettepe University Faculty of Meicine, Department of Dermatology, Ankara, Turkey.

Multiple endocrine neoplasia (MEN) type 2B syndrome is an autosomal dominantly inherited endocrine disorder with rare skin manifestations. We report the case of a 19-year-old Turkish girl who presented with skin-colored flat papules scattered all over the trunk and extremities. Additionally, she had marfanoid habitus, thick lips, and multiple flesh-colored papules over the inner eyelids and oral mucosa. Histopathological examination of one of the trunk lesions was consistent with lichen nitidus. Her past medical history was significant for medullary thyroid carcinoma. Genetic testing showed a point mutation in exon 16 at codon 918 (M918T) in the RET proto-oncogene. Based on all these findings, MEN type 2B was diagnosed. To the best of our knowledge we report the first case of MEN type 2B associated with lichen nitidus.

UI MeSH Term Description Entries
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090063 Proto-Oncogene Mas A protein that is encoded by the MAS1 gene. It is a receptor for ANGIOTENSIN 1-7 and acts as an antagonist of ANGIOTENSIN-2 TYPE 1 RECEPTOR. C-Mas Protein,II-Proto-Oncogene Proteins, Cellular,Mas Protein,Mas1 Protein,Proto-Oncogene Protein Mas,Proto-Oncogene Proteins C-Mas-1,C Mas Protein,C-Mas-1, Proto-Oncogene Proteins,Cellular II-Proto-Oncogene Proteins,II Proto Oncogene Proteins, Cellular,Mas, Proto-Oncogene,Protein Mas, Proto-Oncogene,Protein, C-Mas,Protein, Mas,Protein, Mas1,Proteins, Cellular II-Proto-Oncogene,Proto Oncogene Mas,Proto Oncogene Proteins C Mas 1
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D017513 Lichen Nitidus A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.
D018814 Multiple Endocrine Neoplasia Type 2b Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease. MEN 2b,MEN 3,Neoplasia, Multiple Endocrine Type 2b,Neoplasms, Multiple Endocrine Type 2b,MEA 2b,MEA IIb,MEN III,MEN IIb,MEN2b,Mucosal Neuroma Syndrome,Multiple Endocrine Neoplasia, Type 2b,Multiple Endocrine Neoplasia, Type IIb,Multiple Endocrine Neoplasms Type 2b,Neuromata, Mucosal, With Endocrine Tumors,Wagenmann-Froboese Syndrome,Mucosal Neuroma Syndromes,Neuroma Syndrome, Mucosal,Syndrome, Wagenmann-Froboese,Wagenmann Froboese Syndrome

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