Ichthyosis

C Gutiérrez-Cerrajero, E Sprecher, AS Paller… - Nature Reviews …, 2023 - nature.com
The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

New developments in the molecular treatment of ichthyosis: review of the literature

MDW Joosten, JMK Clabbers, N Jonca… - Orphanet journal of rare …, 2022 - Springer
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent
years, new advances in understanding the pathophysiology of ichthyosis have been made …

[HTML][HTML] Autosomal recessive congenital ichthyosis

J Fischer - Journal of investigative dermatology, 2009 - Elsevier
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has
illustrated the power of genetic strategies for the investigation of newly recognized metabolic …

Management of congenital ichthyoses: European guidelines of care, part two

J Mazereeuw‐Hautier… - British Journal of …, 2019 - academic.oup.com
These guidelines for the management of congenital ichthyoses have been developed by a
multidisciplinary group of European experts following a systematic review of the current …

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents

AL Zaenglein, ML Levy, NS Stefanko… - Pediatric …, 2021 - Wiley Online Library
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other
disorders of cornification. Due to the need for long‐term use of retinoids for these disorders …

Netherton syndrome in children: management and future perspectives

F Barbati, M Giovannini, T Oranges, L Lodi… - Frontiers in …, 2021 - frontiersin.org
Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a
triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft …

Successful treatment of Netherton syndrome with ustekinumab in a 15‐year‐old girl

S Volc, L Maier, A Gritsch, MC Aichelburg… - British Journal of …, 2020 - academic.oup.com
3 Begg C, Hummer A, Mujumdar U et al. A design for cancer case–control studies using only
incident case: experience with the GEM study of melanoma. Int J Epidemiol 2006; 35: 756 …

Netherton syndrome: case report and review of the literature

ME Herz-Ruelas, S Chavez-Alvarez… - Skin Appendage …, 2021 - karger.com
Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of
inheritance caused by pathogenic variants in the SPINK5 gene. It is characterized by a triad …

Challenges in treating genodermatoses: new therapies at the horizon

MA Morren, E Legius, F Giuliano… - Frontiers in …, 2022 - frontiersin.org
Genodermatoses are rare inherited skin diseases that frequently affect other organs. They
often have marked effects on wellbeing and may cause early death. Progress in molecular …

[HTML][HTML] Ichthyosis: a road model for skin research

A Vahlquist, H Törmä - Acta Dermato-Venereologica, 2020 - ncbi.nlm.nih.gov
The understanding of monogenetic disorders of cornification, including the group of
diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of …