Searchable abstracts of presentations at key conferences in endocrinology

ea0090p317 | Calcium and Bone | ECE2023

Calcinosis cutis as a rare manifestation of primary hyperparathyroidism: a case report

Hamny Illias , Mendes Melanie

Background: Calcinosis cutis is a rare manifestation characterized by calcium deposits in the skin and subcutaneous tissues, mostly found in auto-immune diseases. A case of calcinosis cutis (on the vertex and the face) associated to hyperparathyroidism is presented. We discuss the etiology, diagnosis and management of this rare condition, along with a short review of the literatureCase presentation: We report a case of calcinosis cutis with primary hyper...

ea0070aep624 | Pituitary and Neuroendocrinology | ECE2020

Contribution of NGS in the genetic analysis of neuroendocrine tumors associated with Multiple Endocrine neoplasia type 1 (MEN 1)

Hamny Illias , Françoise Borson-Chazot , Sophie Giraud

Objective: Next Generation Sequencing technique (NGS) allows the analysis of a whole set of genes in the same time. It is, now, used, in our laboratory for the genetic screening of neuroendocrine tumors associated with Multiple Endocrine neoplasia type 1(MEN1)The objective of the present study was to assess the efficiency of this approach and the relevance of the results regarding the current genetic screening recommendations.Methods: The data of all pat...