Unusual Skin Manifestations in Neonatal Lupus Erythematosus.

Neonatal lupus erythematous (NLE) is a rare autoimmune disease caused by placental transfer of maternal anti-SSA/Ro or anti-SSB/La antibodies. It usually presents with transient cutaneous lesions, congenital heart block and other systemic symptoms. The authors report a case of neonatal lupus erythematosus who presented with targetoid-like lesions on both feet.

The randomized trials of 10% urea cream and 0.025% tretinoin cream in the treatment of acanthosis nigricans.

BACKGROUND: Acanthosis nigricans is characterized as hyperpigmented skin and velvety surface on posterior and lateral folds of the neck and the intertriginous areas. This study aimed to assess the efficacy of topical 10% urea cream compared to 0.025% tretinoin cream in the treatment of acanthosis nigricans. MATERIAL AND METHODS: This was an 8-week trial, double-blind, randomized, comparative study of topical 10% urea and 0.025% tretinoin for the treatment of the neck hyperpigmentation. The Mexameter MX18 was used for assessing treatment efficacy. The global evaluation scale was also used to evaluate the overall success rate at weeks 2, 4, and 8 of the study. RESULTS: There was a statistically significant difference between 10% urea and 0.025% tretinoin in the treatment of acanthosis nigricans (p < 0.01). The efficacy of 10% urea and 0.025% tretinoin treatment shows 11.4 ± 5.7% and 20.1 ± 9.7% improvement, respectively. The treatment efficacy using the investigator's global evaluation found that 36.8% of participants treated with 10% urea and 63.2% of participants treated with 0.025% tretinoin had more than 75% skin improvement. CONCLUSION: Both medications significantly improved neck hyperpigmentation. However, the efficacy of 0.025% tretinoin was significantly better than 10% urea in the treatment of acanthosis nigricans. CLINICAL TRIALS REGISTRY: TCTR20180703003.

Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.

Dermatofibromas are common benign skin lesions, the etiology of which is poorly understood. We identified two unrelated pedigrees in which there was autosomal dominant transmission of multiple dermatofibromas. Whole exome sequencing revealed a rare shared heterozygous missense variant in the F13A1 gene encoding factor XIII subunit A (FXIII-A), a transglutaminase involved in hemostasis, wound healing, tumor growth, and apoptosis. The variant (p.Lys679Met) has an allele frequency of 0.0002 and is predicted to be a damaging mutation. Recombinant human Lys679Met FXIII-A demonstrated reduced fibrin crosslinking activity in vitro. Of note, the treatment of fibroblasts with media containing Lys679Met FXIII-A led to enhanced adhesion, proliferation, and type I collagen synthesis. Immunostaining revealed co-localization between FXIII-A and α4ß1 integrins, more prominently for Lys679Met FXIII-A than the wild type. In addition, both the α4ß1 inhibitors and the mutation of the FXIII-A Isoleucine-Leucine-Aspartate-Threonine (ILDT) motif prevented Lys679Met FXIII-A-dependent proliferation and collagen synthesis of fibroblasts. Our data suggest that the Lys679Met mutation may lead to a conformational change in the FXIII-A protein that enhances α4-integrin binding and provides insight into an unexpected role for FXIII-A in the pathobiology of familial dermatofibroma.