Inherited disorders of cornification

V Oji, D Metze, H Traupe - Rook's Textbook of Dermatology …, 2016 - Wiley Online Library
The majority of keratinization disorders are referred to as Mendelian disorders of
cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible …

Inherited ichthyosis as a paradigm of rare skin disorders: genomic medicine, pathogenesis, and management

JS Park, AH Saeidian, L Youssefian… - Journal of the American …, 2023 - Elsevier
Great advances have been made in the field of heritable skin disorders using next-
generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome …

[PDF][PDF] Arvelige hårskaftsanomalier

HHMEDF FRAGILITET - Ugeskr Læger, 2021 - content.ugeskriftet.dk
Arvelige hårsygdomme betragtes som sjældne, men de er dog potentielle kliniske
problemstillinger. Mere ualmindelig er undergruppen hårskaftsanomalier, der forekommer i …

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

A Moar, M Bruni, D Schena, E Rigotti… - Clinical Case …, 2021 - Wiley Online Library
A child who comes to our attention for the appearance of erythematous, scaly lesions
localized to the upper and lower limbs for 2 months. Histological features suggested …

[PDF][PDF] The multifaceted roles of Nrf2 in immunity, wound healing, and epidermal barrier function

S Muzumdar - 2019 - research-collection.ethz.ch
Best-known for its role in the cellular oxidative stress response, the Nrf2 transcription factor
is now known to be implicated in a wide variety of biological processes. In order to probe the …