Peutz-Jeghers syndrome is a rare but potentially life-threating syndrome. We report here the case of a young girl who presented recurrent small bowel intussusceptions. Laparotomy exploration showed many jejunal polyps leading to jejunojejunal intussusceptions.
View Article and Find Full Text PDFIntroduction: Lichen sclerosus is a chronic inflammatory and atrophic dermatosis affecting preferentially the anogenital region. However, the cutaneous involvement remains less known and studied.
Methods: We collected 17 patients to study the clinical and therapeutic features of cutaneous lichen sclerosus.
Wells syndrome is a rare eosinophilic syndrome, associating inflammatory lesions, suggestive histological images and frequent eosinophilia. Wells syndrome is characterized by multiplicity of anatomoclinical forms. Clinically, lesions may be urticarial, annular, papulonodular, papulovesicular or bullous.
View Article and Find Full Text PDFRosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder affecting lymph nodes as well as extranodal sites. Although cutaneous involvement in RDD is common, primary cutaneous RDD is a distinct and not well-documented entity with unknown aetiology and non-specific clinicopathological features. We report a case of a 57-year-old patient, who presented with an indolent skin nodule in the left sub-nipple area.
View Article and Find Full Text PDFBackground: CD155 immune checkpoint has recently emerged as a compelling immunotherapeutic target. Epigenetic DNA methylation changes are recognized as key molecular mechanisms in cancer development. Hence, the identification of methylation markers that are sensitive and specific for breast cancer may improve early detection and predict prognosis.
View Article and Find Full Text PDFDiffuse dermal angiomatosis (DDA) is a type of reactive skin angioproliferation. Clinically, this rare disorder presents as red-violet purpuric papules and/or plaques (some with a greater tendency towards necrosis and ulceration), which can be localized in any body area, but is most often seen in the upper and lower extremities. Localization in the breast commonly presents with severe intractable breast pain and characteristic reticular violaceous erythematous plaques with central ulcerations.
View Article and Find Full Text PDFToll-like receptor 4 (TLR-4), a bacterial lipopolysaccharide sensor, is an innate immunity essential modulator. It is expressed on both immune and non-immune cells and may contribute to the cutaneous and renal manifestations during lupus erythematosus (LE). Our purpose is to evaluate TLR-4 expression and analyzing its role in lupus nephritis (LN) and chronic cutaneous lupus erythematosus (CLE) pathogenesis.
View Article and Find Full Text PDFRenal tubular dysgenesis is a clinical disorder that is observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset and persistent oligohydramnios that leads to the Potter sequence, and skull ossification defects. It may be acquired during fetal development or inherited as an autosomal recessive disease. It was shown recently that autosomal recessive renal tubular dysgenesis is genetically heterogeneous and linked to mutations in the genes that encode components of the renin-angiotensin system.
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