Lipoid proteinosis: identification of a novel nonsense mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh

• Main Authors: Khan, Md. Azraf Hossain, Reza, Md. Abu, Md. Sharaf, Ibrahim, Alam, Md. Jahangir, Rahman, Md. Mostafizur, Chandra, Pampa, Anwar, Kazi Selim, Salam, Md. Abdus
• Format: Article
• Language: English
• Published: Professional Medical Publications 2023
• Subjects: RL Dermatology
• Online Access: http://irep.iium.edu.my/104725/8/104725_Lipoid%20Proteinosis.pdf; http://irep.iium.edu.my/104725/; https://www.pjms.org.pk/index.php/pjms/article/view/7437

Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythem...