Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC.

ABSTRACT: Background: Autosomal recessive cutis laxa type IC (ARCL1C) is characterized by cutis laxa accompanied by pulmonary, gastrointestinal, urinary, musculoskeletal involvement caused by biallelic mutations in latent transforming growth factor-beta binding protein 4 (LTBP4) gene. The overall prognosis is poor, and most patients die in infancy because of severe pulmonary emphysema (PE). Aim: We aimed to evaluate 3 ARCL1C patients, 2 of whom are still alive and in their childhood period, from 2 unrelated families with novel LTBP4 mutations, to demonstrate the clinical variability of pulmonary involvement. Materials and Methods: Three children who were molecularly confirmed by LTBP4 sequencing analysis were comprehensively reviewed in

SUBMITTER: Mutlu-Albayrak H 

PROVIDER: S-EPMC9353980 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature