ea0063ep80 | Interdisciplinary endocrinology | ECE2019
Fetoui Nadia Ghariani
, Ghariani Najet
, Hasni Yosra
, Rekaya Mariam Ben
, Gammoudi Rima
, Kahla Marwen Ben
, Hajji Ikram
, Aounallah Amina
, Mokni Sana
, Chaieb Molka
, Maaroufi Amel
, Abdelhak Sonia
, Belajouza Colandane
, Boussofara Lobna
, Denguezli Mohamed
Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis, with specific clinical features. Herein, we report a case of RTS with RECQL4 mutation, unusually associated with hypercortisolemia.Case report: An 18-year-old girl, born to consanguinous parents, with a history of xeroderma pigmentosum (XP) in two cousins, has been followed-up for RTS, since the age of 3 years. The diagnosis of RTS was made based on photosensitivi...