Multiple endocrine neoplasia type 2b associated with lichen nitidus

Altaykan A., Ersoy-Evans S., Emre S., Orhan D., Guecer S., Erkin G.

EUROPEAN JOURNAL OF DERMATOLOGY, cilt.17, sa.4, ss.292-294, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 4
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1684/ejd.2007.0202
  • Dergi Adı: EUROPEAN JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.292-294
  • Anahtar Kelimeler: lichen nitidus, multiple endocrine neoplasia type 2B, neuromas, UVB phototherapy, RET PROTOONCOGENE, TRANSFORMING GENE, SPORADIC TUMORS, MUTATIONS, PHEOCHROMOCYTOMA
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Multiple endocrine neoplasia (MEN) type 2B syndrome is an autosomal dominantly inherited endocrine disorder with rare skin manifestastions. 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-olored 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.