Papules on the Eyelids, Lips, and Tongue  

Oleh:

Tehrani, Mohammad Reza Mohajeri ; Aalaa, Maryam

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 364 no. 09 (Mar. 2011), page 870.
Topik: Dermal Nodules; Thyroid Cancer
Fulltext: Eyelids.pdf (78.67KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2011.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

A 16-year-old boy presented with multiple flesh-colored papules and dermal nodules on his eyelids, lips, and tongue (Panels A, B, and C, respectively). Six years earlier, his mother had received a diagnosis of metastatic medullary thyroid cancer, at the age of 38 years. At that time, both of her sons were found to have markedly elevated serum calcitonin levels but no biochemical evidence of pheochromocytoma. Both boys subsequently underwent total thyroidectomy. On pathological examination, a medullary thyroid tumor measuring 0.5 cm by 0.5 cm had been discovered in the thyroid gland of this patient. This clinical history is suggestive of the multiple endocrine neoplasia type 2B syndrome, an autosomal dominant condition characterized by medullary thyroid cancer, pheochromocytoma, mucosal neuromas, intestinal ganglioneuromas, and marfanoid body habitus. Although comprehensive genotyping of the RET proto-oncogene was not available at the time of this family's presentation, such analysis now allows for highly specific screening of family members and subsequent initiation of genetic counseling, pheochromocytoma screening, and prophylactic thyroidectomy. The boy continues to receive levothyroxine replacement therapy and appropriate screening investigations.

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali