Misleading pustular plaques of the lower limbs during Crohn's disease: two case reports

<p>Abstract</p> <p>Background</p> <p>Extraintestinal manifestations of Crohn's disease may involve the skin, the eyes, the genital mucosa, and the joints. Dermatoses associated with Crohn's disease include neutrophilic dermatoses, erythema nodosum, granulomatous dermatitis, blistering dermatoses, and non-specific skin manifestations. Cutaneous Crohn's disease is characterized by skin non-caseating epithelioid granulomatas with giant cells, remote from the gastrointestinal tract. We report herein two new cases.</p> <p>Observations</p> <p>On both patients, differential diagnosis of neutrophilic dermatoses and infectious disease were evoked, and antimicrobial agents were introduced in one of them. Given the atypical presentation, the final diagnosis of cutaneous Crohn's disease could only be made with histological examination. In patient 1, the plaques decreased in size and infiltration by more than 75% after 3 weeks of treatment with bethametasone dipropionate 0.05% cream. In patient 2, the plaques decreased by more than 50% after 6 weeks of treatment with prednisolone (45 mg/day) and azathioprine (100 mg/day).</p> <p>Discussion</p> <p>Cutaneous Crohn's disease may present as dusky, erythematous, infiltrated, and ulcerated plaques and nodules. Female-to-male sex ratio is about 2, and the mean age at onset is 35. Recurrently, the hypothesis of a skin mycobacterial or fungal infection greatly delays proper treatment. Rarity of cutaneous Crohn's disease hampers therapeutic assessment in controlled trials. Thus, available literature is limited to case reports and sparse small series, with contradictory results. These reports are subject to publication bias, and no definite evidence-based recommendations can be made on the most adequate therapeutic strategy.</p

Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient

Werner syndrome (WS) is a progeroid or premature aging syndrome characterized by early onset of age-related pathologies and cancer. The average life expectancy of affected people is 52.8 years and tends to increase. The major causes of death are malignancy and myocardial infarction. Increased telomere attrition and decay are thought to play a causative role in the clinical and pathological manifestations of the disease. Although telomere length, with or without germline mutation, is known to be associated with interstitial lung disease, the latter is not associated with WS. To the best of our knowledge, we report the first case describing a WS patient with fatal ILD. This case suggests that older patients with WS could develop ILD. Clinical outcome of WS patients may thus be improved by counselling them regarding smoking cessation or other exposure and by proposing antifibrotic therapy

NRAS Mutation Is the Sole Recurrent Somatic Mutation in Large Congenital Melanocytic Nevi

Congenital melanocytic nevus (CMN) is a particular melanocytic in utero proliferation characterized by an increased risk of melanoma transformation during infancy or adulthood. NRAS and BRAF mutations have consistently been reported in CMN samples, but until recently results have been contradictory. We therefore studied a series of large and giant CMNs and compared them with small and medium CMNs using Sanger sequencing, pyrosequencing, high-resolution melting analysis, and mutation enrichment by an enhanced version of ice-COLD-PCR. Large–giant CMNs displayed NRAS mutations in 94.7% of cases (18/19). At that point, the role of additional mutations in CMN pathogenesis had to be investigated. We therefore performed exome sequencing on five specimens of large–giant nevi. The results showed that NRAS mutation was the sole recurrent somatic event found in such melanocytic proliferations. The genetic profile of small–medium CMNs was significantly different, with 70% of cases bearing NRAS mutations and 30% showing BRAF mutations. These findings strongly suggest that NRAS mutations are sufficient to drive melanocytic benign proliferations in utero

Chemical characterization of inks in skin reactions to tattoo

Skin reactions are well described complications of tattooing, usually provoked by red inks. Chemical characterizations of these inks are usually based on limited subjects and techniques. This study aimed to determine the organic and inorganic composition of inks using X-ray fluorescence spectroscopy (XRF), X-ray absorption spectroscopy (XANES) and Raman spectroscopy, in a cohort of patients with cutaneous hypersensitivity reactions to tattoo. A retrospective multicenter study was performed, including 15 patients diagnosed with skin reactions to tattoos. Almost half of these patients developed skin reactions on black inks. XRF identified known allergenic metals - titanium, chromium, manganese, nickel and copper - in almost all cases. XANES spectroscopy distinguished zinc and iron present in ink from these elements in endogenous biomolecules. Raman spectroscopy showed the presence of both reported (azo pigments, quinacridone) and unreported (carbon black, phtalocyanine) putative organic sensitizer compounds, and also defined the phase in which Ti was engaged. To the best of the authors' knowledge, this paper reports the largest cohort of skin hypersensitivity reactions analyzed by multiple complementary techniques. With almost half the patients presenting skin reaction on black tattoo, the study suggests that black modern inks should also be considered to provoke skin reactions, probably because of the common association of carbon black with potential allergenic metals within these inks. Analysis of more skin reactions to tattoos is needed to identify the relevant chemical compounds and help render tattoo ink composition safer.Peer reviewe

Intérêt du GM-CSF dans le traitement des ulcères au cours de la drépanocytose

PARIS5-BU Méd.Cochin (751142101) / SudocPARIS-BIUM (751062103) / SudocCentre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

Etude cas témoins des caractéristiques associées à la dermatose polymorphe de la grossesse

PARIS7-Xavier Bichat (751182101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Manifestations cytanées du syndrome des anti-synthétases

PARIS5-BU Méd.Cochin (751142101) / SudocPARIS-BIUM (751062103) / SudocCentre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

Fetal cell microchimerism in cancer: a meaningful event

The influence of pregnancy on the occurrence and evolution of maternal tumors has been long debated. Breast carcinomas or melanomas have been suspected to be more severe during gestation. Recently, many investigators have described the transfer and persistence of fetal cells in maternal circulation and tissues during and after pregnancy. These fetal microchimeric cells have been described in a variety of maternal injured tissues where they displayed the host-tissue phenotype. Given the wide variety of injury and tissue types described, cancer has appeared as a potential situation that could be influenced by fetal microchimeric cells. This new unexplored effect of gestation on tumor course has been hypothesized as either protective against cancer, via the activity of allogenic fetal cells, or as promoting cancer, via a supportive role of fetal microchimeric cells in the tumor stroma. In this review, we will detail recent data supporting these hypotheses

Conséquences immunologiques du microchimérisme foetal et maternel dans plusieurs modèles murins

PARIS-BIUSJ-Physique recherche (751052113) / SudocSudocFranceF

Cicatrisation cutanée normale et pathologique (analyse du rôle des cellules souches extra-cutanées et de certains mécanismes moléculaires)

La cicatrisation cutanée est un processus dans lequel des progéniteurs hématopoïétiques et endothéliaux sont recrutés dans les plaies à partir du sang et de la moelle osseuse. Au cours de la grossesse, des progéniteurs sont transférés de l enfant chez la mère et persistent plusieurs années après l accouchement dans des niches. Nous avons d abord étudié l implication de cellules fœtales au cours de la cicatrisation cutanée maternelle chez des souris sauvages (WT) gestantes de fœtus transgéniques GFP. Les cellules fœtales ont été détectées dans toutes les plaies maternelles non cicatrisées mais disparaissaient après cicatrisation complète. Le phénotype des cellules fœtales dans les plaies variait selon les phases de la cicatrisation : inflammatoire dans les phases précoces et endothélial dans les phases tardives. Des vaisseaux constitués entièrement de cellules endothéliales fœtales étaient retrouvés dans les plaies maternelles démontrant le transfert de progéniteurs endothéliaux fœtaux. La cicatrisation mobilisait des cellules fœtales CD34+ckit- mais qui n avaient pas le phénotype classique des progéniteurs endothéliaux circulants CD34+CD11b-VEGFR2+. Dans la deuxième partie, nous nous somme intéressés au rôle des calpaïnes protéases impliquées dans la motilité cellulaires dans la cicatrisation cutanée. Chez des souris transgéniques surexprimant la calpastatine, inhibiteur physiologique des calpaïnes, la cicatrisation était retardée comparée aux WT, avec diminution de la prolifération cellulaire, de l infiltrat inflammatoire et de la surface vasculaire sanguine. Dans les phases tardives, les calpaïnes participent au dépôt de collagène dans la cicatricePARIS-BIUSJ-Biologie recherche (751052107) / SudocSudocFranceF