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 …

[HTML][HTML] Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

A Diociaiuti, M El Hachem, E Pisaneschi… - Orphanet Journal of …, 2016 - Springer
Background The term ichthyosis describes a generalized disorder of cornification
characterized by scaling and/or hyperkeratosis of different skin regions. Mutations in a broad …

[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 …

[HTML][HTML] Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment

A Vahlquist, J Fischer, H Törmä - American Journal of Clinical …, 2018 - Springer
Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different
genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms …

[HTML][HTML] Recent advances in understanding ichthyosis pathogenesis

NV Marukian, KA Choate - F1000Research, 2016 - ncbi.nlm.nih.gov
The ichthyoses, also known as disorders of keratinization (DOK), encompass a
heterogeneous group of skin diseases linked by the common finding of abnormal barrier …

Inherited ichthyosis: non‐syndromic forms

T Takeichi, M Akiyama - The Journal of dermatology, 2016 - Wiley Online Library
Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin,
scaling and hyperkeratosis, and often associated with erythroderma. These manifestations …

[HTML][HTML] Inherited ichthyoses/generalized Mendelian disorders of cornification

M Schmuth, V Martinz, AR Janecke, C Fauth… - European Journal of …, 2013 - nature.com
Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification,
are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This …

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009

V Oji, G Tadini, M Akiyama, CB Bardon… - Journal of the American …, 2010 - Elsevier
BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically
heterogeneous group of mendelian disorders of cornification, typically involving the entire …

[HTML][HTML] Genetics of inherited ichthyoses and related diseases

J Fischer, E Bourrat - Acta dermato-venereologica, 2020 - ncbi.nlm.nih.gov
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which
are defined on the basis of clinical and genetic features and are mainly divided into non …

Ichthyoses: differential diagnosis and molecular genetics

V Oji, H Traupe - European Journal of Dermatology, 2006 - jle.com
Ichthyoses are a heterogeneous group of cornification disorders characterized by a
generalized scaling of the skin. Common types such as ichthyosis vulgaris and X-linked …