research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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30 / 1000+ results research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research The Estrogen Receptor 2 (ESR2) Gene in Female-Pattern Hair Loss: Replication of Association with rs10137185 in German Patients
ESR2 gene linked to female-pattern hair loss.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Symmetrical Acrokeratoderma: A Peculiar Entity in China? Clinicopathologic and Immunopathologic Study of 34 New Cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research Successful Induction of Oral Tolerance in Netherton Syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Cornification
Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.
research Medications
Understanding drug interactions, side effects, and patient-specific factors is crucial for effective dermatological care.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Harlequin Ichthyosis
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.