Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.

ABSTRACT:

Rationale

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma.

Patient concerns

A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to our department. She has experienced multiple fractures at lower limbs in the last 2 decades.

Diagnoses

The patient's clinical examination revealed short stature, underweight, a prominent forehead, stubby fingers, and a fixed nodule in the right thyroid lobe. Intraoral examination revealed multiple clinically malposed and missing teeth, as wel

SUBMITTER: Shi X 

PROVIDER: S-EPMC5815678 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature