Adults With Congenital Heart Disease Have an Increased Prevalence of Autoimmunity.

Background: Adult congenital heart disease (ACHD) individuals have increased risk of noncardiac comorbidities including cancer and infections. Whether they are at increased risk of autoimmunity is unknown.

Objectives: The purpose of this study was to understand the association of ACHD and risk for autoimmunity.

A recurrent de novo damaging variant in causes progressive symmetric erythrokeratoderma.

Genetic investigation in Mendelian skin disorders featuring generalized or localized skin scaling and redness, known as the ichthyoses, has revealed novel pathways relevant to epidermal integrity, barrier function, and desquamation. Here, we show that a recurrent de novo missense variant in (epithelial membrane protein 2), which encodes a cell surface tetraspan protein in the growth-arrest specific 3 (GAS3)/peripheral myelin protein 22 (PMP22) family, is associated with a Mendelian skin disorder in the progressive symmetric erythrokeratoderma spectrum. The disorder features severely thickened, red, and scaly skin at sites of wound healing or repetitive movement including on the face, genitals, flexural areas, and the palms and soles.

Reliability of the Ichthyosis Scoring System in Individuals With Skin of Color.

Importance: The Ichthyosis Scoring System (ISS) is a reliable instrument for assessing ichthyosis severity. The ISS's performance in individuals with skin of color (ie, Fitzpatrick IV-VI skin types) remains unknown because it was initially assessed in individuals with Fitzpatrick I to III skin types.

Objective: To assess the reliability of the ISS in individuals with Fitzpatrick IV to VI skin types.

Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant.

We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous variant (c.C1361 T, p.P454L).

Irwin M. Braverman, MD: A pillar of dermatology.

In dermatology, there is a small cohort of luminaries who stand out for their contributions to our specialty. Irwin M. Braverman is one such individual, who has made significant contributions to our understanding of skin signs of systemic disease, the ultrastructure of cutaneous vasculature, and the use of art visual interpretation as a tool to teach clinical observation skills.

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.

Background: Epidermal differentiation disorders [EDDs; ichthyosis and palmoplantar keratoderma (PPK)] are heritable skin conditions characterized by localized or generalized skin scaling and erythema.

Objectives: To identify novel genetic variants that cause PPK and progressive symmetric erythrokeratoderma (PSEK) phenotypes.

Methods: We performed whole-exome sequencing in a large cohort of people with EDD, including PPK and PSEK phenotypes, to identify novel genetic variants.

Association of Somatic ATP2A2 Damaging Variants With Grover Disease.

Importance: Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and organ transplantation. The pathobiology of GD remains unknown.

Objective: To determine if damaging somatic single-nucleotide variants (SNVs) are associated with GD.

Nagashima-type palmoplantar keratoderma: Case series and two novel variants.

Nagashima-type palmoplantar keratoderma (PPK) is an autosomal recessive PPK. We report four patients, highlight two new genetic variants, and emphasize the possibility of misdiagnosing the condition. Concomitant atopic dermatitis, specifically, may make correct diagnosis challenging.

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Background: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case with a GJA1 mutation have been previously reported.

Objective: To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN.

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

Importance: Treatment of congenital ichthyoses primarily focuses on reversing skin scaling and is not pathogenesis based. Recent studies showed Th17 immune skewing, as in psoriasis, across the spectrum of ichthyosis, suggesting that targeting this pathway might broadly reduce disease severity.

Objective: To determine whether secukinumab, an IL-17A inhibitor, can improve ichthyosis across several congenital ichthyosis subtypes.

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

Importance: A comprehensive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the care of patients with ichthyosis, identifying appropriate participants for clinical trials, and quantifying treatment outcomes. To our knowledge, there is currently no validated scale to objectively and systematically measure ichthyosis severity across the entire body.

Objective: To create and evaluate a comprehensive and user-friendly instrument to measure total body ichthyosis severity in adults and children.

Erratum: Cutaneous and hepatic vascular lesions due to a recurrent somatic mutation reveal a pathway for vascular malformation.

[This corrects the article DOI: 10.1016/j.xhgg.

Cutaneous mosaicism: Special considerations for women.

Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is readily visualized since affected tissue often follows predetermined patterns, such as lines of Blaschko.

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Importance: Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish.

Objective: To expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations.