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This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.

In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.

This study found that men with X-linked recessive ichthyosis did not show mutual exclusivity with androgenetic alopecia, as some exhibited advanced hair loss.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This hypothesis paper proposes that men with X-linked recessive ichthyosis may exhibit no androgenetic alopecia or only mild forms, and suggests clinical studies to evaluate this hypothesis.

In this study, the researchers used structural studies and molecular calculations to suggest that the enzyme in RXLI patient hair follicles is less efficient, rather than completely inactive.

This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.

This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.

This study reviewed 26 cases of X-linked recessive ichthyosis and observed 11 patients with advanced-stage androgenetic alopecia, suggesting a compensatory role of two steroid biosynthesis pathways.

This study found that a gluconolactone-based shampoo and lotion significantly reduced skin scaling in golden retrievers with autosomal recessive congenital ichthyosis.

This case study reports that hypertrichosis, although not always present, may be an important diagnostic clue for superficial epidermolytic ichthyosis in a young child.

This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.

In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.

This study found that scarring alopecia is common in autosomal recessive congenital ichthyosis patients and significantly correlates with the disease's severity, highlighting the need for thorough hair evaluations in clinical management.

This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.

This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

This review highlights preclinical and clinical advancements in gene and cell therapies for epidermolysis bullosa and ichthyosis, noting a recently FDA-approved gene therapy for recessive dystrophic EB.

Some scalp sores are linked to different inherited skin conditions.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.

This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.

This article reviews the essential role of vitamin D in bone health and its various clinical applications but reports no new clinical findings.

This article reviews historical reports of skin changes, such as pseudoacanthosis nigricans, associated with cholesterol-lowering drugs like triparanol and nicotinic acid, but presents no new clinical findings.

This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.