0000000000495176
AUTHOR
Santi Fiorella
Pili Annulati Coincident with Alopecia Areata, Autoimmune Thyroid Disease, and Primary IgA Deficiency: Case Report and Considerations on the Literature
Pili annulati is a rare autosomal dominant hair disorder clinically characterized by a pattern of alternating bright and dark bands of the hair, the bright bands appearing dark if observed by transmitted light. This pattern is due to the periodic occurrence of air-filled cavities along the hair cortex which scatter and reflect the light while precluding its transmission. A susceptibility region, including a possibly responsible Frizzled gene, has been mapped to the telomeric region of chromosome 12q, although a specific mutation has not been identified. The condition has sometimes been observed in concurrence with alopecia areata, and in this paper we report a case in whom the concomitant s…
Peripheral atherosclerosis is associated with the occurrence of restenosis after percutaneous coronary intervention
INTRODUCTION: The aim of our study was to evaluate, in patients with proven coronary artery disease (CAD) and treated with elective percutaneous coronary intervention (PCI), whether the coexistence of asymptomatic carotid and femoral atherosclerotic lesions would provide prognostic information in terms of occurrence of restenosis. METHODS: We studied 104 patients with CAD (M/F=77/27), mean age 60.5+/-9 years. All patients were treated with elective PCI. After PCI the suspicion of restenosis was confirmed by coronary angiography. All patients underwent ultrasound duplex scan of carotid and femoral-popliteal-tibial axis to detect atherosclerotic lesions. According to ultrasound results, patie…
Sea Urchin Granuloma
Sea urchin granuloma is a chronic focal response to the puncture of sea urchin spines, induced by the permanence of prickle remnants in the wound. Until recent years, it was thought to represent a foreign body reaction but, following the description, in 2001, of its several histologic forms, the spectrum of its likely pathogenetic mechanisms has widened to include the immune responses to different non-self antigens. Depending on individual reactivity, in most cases, a limited number of granulomas is observed, however numerous the punctures may be. We report a case with more than 200 lesions and a tuberculoid histologic pattern, indicative of an immune reaction.
Genetic tools discriminate strains of Leishmania infantum isolated from humans and dogs in Sicily, Italy
Background Leishmaniasis is one of the most important vector-borne diseases and it represents a serious world health problem affecting millions of people. High levels of Leishmania infections, affecting both humans and animals, are recognized among Italian regions. Among these, Sicily has one of the highest prevalence of Leishmania infection. Methodology/Principal Findings Seventy-eight Leishmania strains isolated from human and animal samples across Sicily, were analyzed for the polymorphic k26-gene and genotypes were assigned according to the size of the PCR products. A multilocus microsatellite typing (MLMT) approach based on the analysis of 11 independent loci was used to investigate po…
Centrifugal necrotic keratoacanthoma
Centrifugal necrotic keratoacanthoma is a quite rare variant of keratoacanthoma, with a locally aggressive behavior and no tendency to spontaneous involution. We report a typical case of the nasal-orbital region. Based on its clinical, histological and behavioral picture, centrifugal necrotic keratoacanthoma appears as variant of giant keratoacanthoma and can be regarded as an intermediate form in a spectrum where keratoacanthoma and overt squamous cell carcinoma represent the most benign and the most malignant end, respectively, as also highlighted by analogies between the two lesions recently reported in the field of molecular biology.
Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients.
<i>Background:</i> Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene <i>(CYP21)</i> has a high degree of variability. <i>Objective:</i> This study was conducted to evaluate <i>CYP21 </i>gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. <i>Methods:</i> 30 out of 61 women e…
Postsurgical Paracicatricial Cutaneous Satellitosis of Giant Cell Tumour of the Tendon Sheath, Localized Type
Tenosynovial giant cell tumour (localized type) is a tumour of tendon sheaths and interphalangeal joints, affecting the digits and arising from the synovium. It is characterized by a proliferation of mononuclear cells and osteoclast-like polykaryocytes. Its propagation to the skin is an exceptional event, which can take place either in localized form in the fingertips (localized type) or in the rare diffuse form called giant cell tumour of the tendon sheath (diffuse type). We report here a case of giant cell tumour with cutaneous satellites, which appeared close to and around the surgical scar following the excision of the primary lesion, in a 9-year-old boy. In the cutaneous satellites, a …
Vitiligo susceptibility and catalase gene (CAT) polymorphisms in sicilian population
BACKGROUND Catalase gene (CAT) polymorphisms were analyzed as responsible for the deficiency of catalase enzyme activity and concomitant accumulation of excessive hydrogen peroxide in vitiligo patients. Catalase is a well-known oxidative stress regulator that could play an important role in the pathogenesis of vitiligo. This study was conducted to evaluate three CAT gene polymorphisms (-89A/T, 389C/T, 419C/T) and their association with vitiligo susceptibility in Sicilian population. METHODS Sixty out of 73 Sicilian patients with vitiligo were enrolled and submitted to CAT gene analysis. RESULTS Contrary to the Northern part of Europe but likewise to the Mediterranean area, the frequency of …