Evaluation of a Case Series of Patients With Palmoplantar Pustulosis in the United States.

Importance: Palmoplantar pustulosis (PPP) is a is a chronic, orphan disease with limited epidemiological data.

Objective: To describe the clinical characteristics, treatments, longitudinal disease course, and health care utilization in adults with PPP across the US.

Design, Setting, And Participants: This retrospective, longitudinal case series from 20 academic dermatology practices in the US included a consecutive sample of 197 adults who met the European Rare and Severe Psoriasis Expert Network consensus definition for PPP between January 1, 2007, and December 31, 2018.

Evaluation of a Case Series of Patients With Generalized Pustular Psoriasis in the United States.

Importance: Generalized pustular psoriasis (GPP) is a chronic, orphan disease with limited epidemiological data.

Objective: To describe the clinical characteristics, treatments, longitudinal disease course, and disease-specific health care utilization among patients with GPP across the United States.

Design, Setting, And Participants: A retrospective longitudinal case series involving 95 adults who met the European Rare and Severe Psoriasis Expert Network consensus definition for GPP and were treated at 20 US academic dermatology practices between January 1, 2007, and December 31, 2018.

Carriers of rare missense variants in IFIH1 are protected from psoriasis.

Testing of ∼25,000 putative functional single-nucleotide polymorphisms (SNPs) across the human genome in a genetic association study has identified three psoriasis genes, IL12B, IL23R, and IL13. We now report evidence for the association of psoriasis risk with missense SNPs in the interferon induced with helicase C domain 1 gene (IFIH1). The rare alleles of two independent SNPs were associated with decreased risk of psoriasis--rs35667974 (Ile923Val): odds ratio (OR) for minor allele carriers is 0.

Multiple Loci within the major histocompatibility complex confer risk of psoriasis.

Psoriasis is a common inflammatory skin disease characterized by thickened scaly red plaques. Previously we have performed a genome-wide association study (GWAS) on psoriasis with 1,359 cases and 1,400 controls, which were genotyped for 447,249 SNPs. The most significant finding was for SNP rs12191877, which is in tight linkage disequilibrium with HLA-Cw*0602, the consensus risk allele for psoriasis.

Androgen receptor expression patterns in Becker's nevi: an immunohistochemical study.

Background: Becker's nevus (BN) is a hyperpigmented patch that traditionally presents on the upper torso in adolescent males. Previous studies have reported an association with increased androgen receptors (ARs) in lesional skin in men and women who have associated physical abnormalities.

Objective: This study was conducted to assess the presence of ARs immunohistochemically in female patients with BN but no other physical abnormalities and compare this finding with BN in males and in normal skin.

Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22.

Predisposition to psoriasis is known to be affected by genetic variation in HLA-C, IL12B, and IL23R, and although other psoriasis-associated variants have been identified, incontrovertible statistical evidence for these markers has not yet been obtained. To help resolve this issue, we tested 15 single-nucleotide polymorphisms (SNPs) from 7 putative psoriasis-risk genes in 1,448 psoriasis patients and 1,385 control subjects; 3 SNPs, rs597980 in ADAM33, rs6908425 in CDKAL1 and rs3789604 in PTPN22, were significant with the same risk allele as in prior reports (one-sided P<0.05, false discovery rate<0.

The 5q31 variants associated with psoriasis and Crohn's disease are distinct.

Predisposition to psoriasis is known to be affected by genetic variation in HLA-C, IL12B and IL23R, but other genetic risk factors also exist. We recently reported three psoriasis-associated single nucleotide polymorphisms (SNPs) in the 5q31 locus, a region of high linkage disequilibrium laden with inflammatory pathway genes. The aim of this study was to assess whether other variants in the 5q31 region are causal to these SNPs or make independent contributions to psoriasis risk by genotyping a comprehensive set of tagging SNPs in a 725 kb region bounded by IL3 and IL4 and testing for disease association.

Onychodystrophy and tumor-stage mycosis fungoides confined to a single digit: report of a case and review of nail findings in cutaneous T-cell lymphoma.

Mycosis fungoides is often considered one of the great disease imitators presenting with a wide variety of clinical manifestations. We present a case of tumor-stage mycosis fungoides involving a single digit clinically presenting with diffuse swelling of the digit and onychodystrophy. Histologic findings included a reticular dermal lymphocytic infiltrate with increased ratio of CD4:CD8 cells.