Background: Preoperative diagnosis of malignant collision tumors (MCT) is extremely difficult. The value of dermoscopy to improve the correct detection of these tumors has not been previously studied. This study aims to evaluate the diagnostic accuracy of MCT with and without dermoscopy and to describe the dermoscopic features of a large series of MCT.
View Article and Find Full Text PDFCongenital hemangiomas (CH) are benign vascular tumors that are present at birth and do not stain for the marker Glut-1. Herein, we describe five cases of CH with atypical presentations: 3 with late growth, 1 with slow involution, and 1 that partially involuted rapidly then manifested late growth.
View Article and Find Full Text PDFIntroduction: In order to avoid delay in the diagnosis of acute appendicitis and reduce the margin of error, the use of scales has been used. The aim of this study was to compare the effectiveness of the Alvarado and RIPASA scores in the clinical diagnosis of acute appendicitis and to correlate with the histopathological results.
Methods: Prospective, longitudinal, analytical, comparative and observational study.
Background/objectives: The dermoscopy of lymphangioma circumscriptum, also known as superficial lymphatic malformation, remains to be clarified.
Methods: Digital dermoscopic images of 45 histopathologically confirmed cases of lymphangioma circumscriptum collected from nine hospitals in Spain, Italy and Turkey were evaluated for the presence of dermoscopic structures and patterns.
Results: Our study shows that the most common structure found in lymphangioma circumscriptum was the presence of lacunae (89% of cases).
Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive hereditary disease with a variable prognosis from lethal to very mild. EB-PA is classified into Simplex form (EBS-PA: OMIM #612138) and Junctional form (JEB-PA: OMIM #226730), and it is caused by mutations in ITGA6, ITGB4 and PLEC genes. We report the analysis of six patients with EB-PA, including two dizygotic twins.
View Article and Find Full Text PDFChronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in PSMB8. It is characterized by early-onset fevers, accompanied by a widespread, violaceous, and often annular cutaneous eruption. Although the exact pathogenesis of this syndrome is still obscure, it is postulated that the inflammatory disease manifestations stem from excess secretion of interferons.
View Article and Find Full Text PDFBiochem Biophys Res Commun
November 2012
The H syndrome (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and short stature. It is caused by mutations in the SLC29A3 gene, which encodes for the equilibrative nucleoside transporter 3 protein (ENT3), of still uncertain subcellular localisation. Here we report a new case of H syndrome with the novel mutation c.
View Article and Find Full Text PDFObjective: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children. We undertook this study to investigate the clinical phenotype, genetic cause, and immune dysregulation in 9 CANDLE syndrome patients.
Methods: Genomic DNA from all patients was screened for mutations in PSMB8 (proteasome subunit β type 8).
We report the exceptional case of 11-year-old identical male twins who both developed discoid lupus erythematosus lesions. Although systemic lupus erythematosus has often been reported in identical twins, discoid lupus erythematosus has only occasionally been described, with only one other case in twin children, as far as we are aware.
View Article and Find Full Text PDFWe report the case of a 5-year-old boy who had a temporary dragon-shaped henna pseudotattoo, reinforced 4 days later. Two weeks later, as the pseudotattoo began to disappear, hypertrichosis developed in the area corresponding to the previous psuedotattoo. Skin biopsy showed an increase in vellus hair follicles, with slight peripheral fibrosis.
View Article and Find Full Text PDFWe report two newborns with a widespread cutaneous eruption consisting of discrete papules which evolved into vesicles, pustules, crusts, and ulcers. These healed over a 2-week period with scarring. Histopathology showed three main features--histiocytic granulomas, neutrophilic infiltration, and transepidermal elimination of degenerated collagen and debris through hair follicles.
View Article and Find Full Text PDFWe present the case of a 70-year-old woman with no personal history of interest who presented to her physician with a plaque in the right infraumbilical region whose largest diameter measured nine centimeters. The clinical and histological diagnosis was Bowen's disease. She was treated with 5 % imiquimod cream, once a day, four times a week, for eight weeks, with an excellent response.
View Article and Find Full Text PDFT cells are known to develop a critical role in the pathogenesis of atopic dermatitis (AD) and bronchial asthma. T cells involved in AD express the skin homing receptor CLA, but no lung homing receptor has been identified in bronchial asthma. We compared different cell markers and the cytokine production in T cells from children with AD or bronchial asthma.
View Article and Find Full Text PDFDarier disease is a genodermatosis with a pattern of autosomal dominant inheritance, which occasionally presents by following a linear or segmental pattern. We present the case of a 22-year-old woman who had presented for three years with small, linearly distributed, yellowish-brown papules on the right lower extremity, with no other skin, mucous membrane or appendage involvement. She had no personal or family history of any interest.
View Article and Find Full Text PDFLentigo maligna (LM) is considered to be an in-situ stage of lentigo maligna melanoma. Clinically, it presents as a pigmented macule, irregular in shape and tone. 30% to 35% of untreated lentigo malignas can progress into lentigo maligna melanoma.
View Article and Find Full Text PDFWe present the case of a 50-year-old Latin American woman who consulted her physician because of recent pruritic lesions on her arms and thighs. During the examination, we observed multiple flat papules on the limbs, as well as hypopigmented macules on the trunk which, according to the patient, began to appear during childhood. A histological study was performed on both types of lesions, and showed some enlarged keratinocytes with light blue cytoplasm in the upper layers of the epidermis.
View Article and Find Full Text PDFBackground: Toxic epidermal necrolysis (TEN) is a severe disease often induced by drugs. Treatment is controversial, although intravenous immunoglobulins (IVIGs) have been effective.
Objective: To report the case of a child with TEN after lamotrigine treatment, who improved 24 hours after IVIG administration.