A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris

Infant with collodion membrane just after birth. Key Clinical MessageCoexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations.

Source: Clinical Case Reports - September 20, 2023 Category: General Medicine Authors: Zackary Shearer, Gwenevere White, John Zachary Steed, Carla Brown, Tara Venable, Megan Baber Tags: CASE REPORT Source Type: research