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Last Updated: 01/07/2026

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Found 2122 publications

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.

Journal: JAAD international
Published: November 17, 2025

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing.

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing.

Journal: Cureus
Published: November 04, 2025

Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.

Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.

Journal: JAMA dermatology
Published: October 22, 2025

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.

Journal: The Journal of international medical research
Published: October 08, 2025

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.

Journal: Veterinary dermatology
Published: September 17, 2025

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings.

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings.

Journal: Clinical case reports
Published: July 28, 2025

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.

Journal: Cureus
Published: July 26, 2025

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

Journal: International journal of molecular sciences
Published: July 23, 2025

Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link.

Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link.

Journal: JAAD case reports
Published: July 15, 2025

Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Presenting as Mild Nonbullous Congenital Ichthyosiform Erythroderma.

Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Presenting as Mild Nonbullous Congenital Ichthyosiform Erythroderma.

Journal: Acta dermatovenerologica Croatica : ADC
Published: July 14, 2025

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.

Journal: Frontiers in immunology
Published: July 09, 2025

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection.

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection.

Journal: Biomedicines
Published: June 23, 2025
Showing 1-12 of 2,122

Last Updated: 01/07/2026