Papers by Athanasia Tourlaki
Al lm ma a M Ma at te er r S St tu ud di io or ru um m-U Un ni iv ve er rs si it tà à d di i B Bo... more Al lm ma a M Ma at te er r S St tu ud di io or ru um m-U Un ni iv ve er rs si it tà à d di i B Bo ol lo og gn na a DOTTORATO DI RICERCA IN SCIENZE CHIRURGICHE PROGETTO N.3 "SCIENZE DERMATOLOGICHE" Ciclo XXV Settore Concorsuale di afferenza: 06/D4 Settore Scientifico disciplinare: MED/35 The KIT gene in familial mastocytosis [Il gene KIT nella mastocitosi familiare] Presentata da: Dott.ssa Athanasia Tourlaki
European Journal of Dermatology, Apr 1, 2020
Background: Classic Kaposi's sarcoma (KS) is a rare angioproliferative neoplasm which typically o... more Background: Classic Kaposi's sarcoma (KS) is a rare angioproliferative neoplasm which typically occurs on the skin of the lower limbs of immunocompetent elderly men. Bone involvement in classic KS has been exceptionally reported. Objectives: To identify patients with classic KS who developed bone involvement based on a retrospective analysis of our departmental database. Materials and Methods: Clinical presentation, diagnostic method, treatment, and outcome were analysed and compared with cases reported in the literature. Results: In total, we identified 1,196 patients with classic KS, three (0.25%) of whom developed bone involvement. The patients were all male and the average age at onset of bone involvement was 81.3 years. All three patients had biopsy-proven anaplastic KS affecting a bone of the lower limb. Bone radiological features were non-specific in one patient, while in all patients magnetic resonance imaging revealed osteolytic lesions and/or a solid tumour. HHV8 genotype analysis was performed in two patients, and subtypes A and C were found. Conclusion: Bone involvement should be considered in patients with known KS presenting with bone pain
PubMed, Jan 15, 2004
We report a case of an 85-year-old white man with a diffuse form of psoriasis, who showed a large... more We report a case of an 85-year-old white man with a diffuse form of psoriasis, who showed a large asymptomatic subcutaneous tumour in the sacrococcygeal region. On cut section there was a subcutaneous neoplasia with a glistening, friable surface. Histologically, the deep dermis was infiltrated by cords and nests of pleomorphic cells embedded in an abundant mucinous stroma, and characteristic physaliphorous (multivacuolated) cells were observed. The neoplastic cells were immunohistochemically positive for cytokeratins (using CAM 5.2 and AE1/AE3), vimentin, S100 protein, and epithelial membrane antigen (EMA), but negative for carcinoembryonic antigen (CEA). Histological and immunohistochemical findings led us to the diagnosis of classic chordoma. Chordomas are rare, slow growing malignant tumours of the spinal axis originating from remnants of the notochord. Occasionally, a skin lesion is the first sign of a primitive or metastatic chordoma.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Società italiana di dermatologia e sifilografia, Nov 12, 2020
Paget's disease of bone is a chronic focal abnormality of bone turnover that remains totally asym... more Paget's disease of bone is a chronic focal abnormality of bone turnover that remains totally asymptomatic over a very long period of time but that eventually ensue in bone pain and skeletal deformities. Although, in the last decade new insights have been obtained on its etiology, this remains largely obscure. Effective medical treatment (based on the use of bisphosphonates) has become available and the diagnostic procedures are now well defined. However, there remains considerable controversy regarding the hierarchy of diagnostic procedures and the medical treatment threshold. In the last few years different institution have published national guidelines, reflecting local national health systems and the available medical treatment. In this review, a working group derived from members of the SIOMMMS has examined the information available regarding the diagnosis and treatment of Paget's disease in order to develop guidelines to assist in the management of this condition. The first draft was then extensively reviewed by experts derived from the most representative scientific societies of rheumatology, internal medicine, and orthopaedic surgery. The document provides the most updated recommendations based primarily on the "evidence-based-medicine" but also on the Italian regulation for the diagnostic procedures and on the available medical treatments. Parole chiave-Morbo di Paget, bisfosfonati.
PubMed, Oct 1, 2015
Merkel cell carcinoma (MCC) is a highly aggressive neuroendocrine carcinoma of the skin, arising ... more Merkel cell carcinoma (MCC) is a highly aggressive neuroendocrine carcinoma of the skin, arising from pluripotent precursors of Merkel cells. The tumor most frequently affects head and neck of elderly patients. It increases with sun exposure and after immunosuppression and organ transplantation. Because of a possible viral association, interest in MCC has escalated. A new polyomavirus, Merkel cell polyomavirus (MCPyV), was identified and associated to MCC. In support of this hypothesis, we report three new clinical cases of MCC in which we detected MCPyV by immunohistochemistry and provide an update on current thinking about the MCC.
PubMed, Jun 1, 2016
Skin protects its host from its environment and allows their interactions by providing a physical... more Skin protects its host from its environment and allows their interactions by providing a physical permeability barrier, protection from infectious agents, thermoregulation, and ultraviolet protection. Textiles, in particular clothing, interact with skin functions in a dynamic pattern. For years cotton has been considered as the only comfortable tissue suitable for patients with dermatologic disorders. Nowadays new synthetic fibers with important functions, for example breathability and waterproofing have leaned out and new tissues can be used as a complementary tool in dermatologic treatments. Our purpose is to report the main fibers used for dermatological problems and to review the literature on their use in dermatological field; finally, we also report our personal experience on this topic.
European Journal of Dermatology, Dec 1, 2020
EJD, vol. 30, n◦ 6, November-December 2020 gous missense mutation, c.6110G>A (p.Gly2037Glu), i... more EJD, vol. 30, n◦ 6, November-December 2020 gous missense mutation, c.6110G>A (p.Gly2037Glu), in exon 73 of the COL7A1 gene [4, 5]. In the child, who is now 18 months old, spontaneous blisters no longer develop, although milia are still present on extremities (figure 1B). Our patient was diagnosed with SI-DDEB based on laboratory findings and clinical course. In self-improving DEB, colVII cytoplasmic inclusions are regularly observed by IFM and correspond to colVII retention within the RER [2, 3, 6]. Usually, staining for colVII is reduced to such an extent that it is absent at the BMZ. The epidermal inclusions resolve over time, with parallel increase in colVII expression [7, 8]. The concomitant reduction or cessation of skin fragility is thought to be secondary to normalization of colVII secretion from keratinocytes. However, persistence of intraepidermal colVII in the presence of normal BMZ labelling has been observed after resolution of skin fragility [8]. In our patient, the skin biopsy was performed at three months of age, when disease was already markedly attenuated. At that time, IFM for colVII showed granular labelling throughout the epidermis but also linear staining at the BMZ, and ultrastructural examination revealed cytoplasmic inclusions mainly localized within suprabasal keratinocytes, containing few elongated dense structures. We hypothesize that these features capture an intermediate phase in self-improving DEB pathology, corresponding to initial secretion of colVII concomitant with residual retention within keratinocytes. The dominant colVII glycine substitution, p.Gly2037Glu, identified in our patient has been previously reported. The mutation causes colVII retention within HaCaT keratinocytes and is associated with granular labelling in the basal epidermis [4, 5]. In previous cases, the mutation p.Gly2037Glu resulted in a phenotype of intermediate DDEB; a 12-year-old female had acral and oral blisters together with albopapuloid lesions [4] and a two-yearold child continued to develop blisters on the trunk and lower extremities (supplementary table 1). In contrast, in our patient, oral involvement rapidly resolved in infancy and skin blisters were strictly localized to extremities and ceased by the second year of life. However, our relatively short follow-up does not allow to formally exclude that some skin fragility signs recur in the future, a limitation shared by other self-improving DEB cases reported in the literature [6]. In conclusion, comparison of our patient with the other cases carrying the missense p.Gly2037Glu mutation shows that the same mutation may result in a variable phenotype, possibly due to individual genetic backgrounds and environmental factors.
Giornale italiano di dermatologia e venereologia, Dec 1, 2020
Journal of Cutaneous Medicine and Surgery, Jan 18, 2023
Background occasional case reports have described the appearance of Kaposi’s sarcoma (KS) on prev... more Background occasional case reports have described the appearance of Kaposi’s sarcoma (KS) on previously unaffected skin after incidental or accidental injury, but the association is probably under-reported. Objectives to present a large case series of patients suffering from Koebner phenomenon (KP) in KS and describe their main epidemiological, clinical, and therapeutic features. Methods we have retrospectively analyzed our clinical and photographic records of 524 patients who had been diagnosed with KS between 2009 and 2021. Results 31 of 524 (6%) KS patients developed KP. Among these 31 patients, 24 (77%) had KS lesions after surgery, 4 (13%) after electrochemotherapy, laser therapy and cryotherapy, and 3 (10%) on areas affected by bullous diseases. Conclusions trauma, including surgery or other medical procedures, can trigger KS, underlying the importance of treatment options which cause the least injury to the skin.
International Journal of Dermatology, Apr 8, 2021
Mucosal involvement in HIV‐negative Kaposi's sarcoma (KS) is uncommon but has potentially ser... more Mucosal involvement in HIV‐negative Kaposi's sarcoma (KS) is uncommon but has potentially serious repercussions on patient care. Evidence regarding its epidemiology and optimal management is limited. Invasive endoscopic staging at diagnosis and periodically during follow‐up is currently recommended by major guidelines.
Clinical and Experimental Dermatology, Jun 9, 2017
Clinical Oncology, Oct 1, 2017
Aims: Kaposi's sarcoma (KS) is a lymphoangioproliferative multicentric disorder. Among its four d... more Aims: Kaposi's sarcoma (KS) is a lymphoangioproliferative multicentric disorder. Among its four distinct clinical variants, iatrogenic KS (iKS) typically affects patients who have received immunosuppressant regimens for organ transplants, proliferative disorders, or immune-mediated diseases. The aim of the current study was to examine the characteristics of a cohort of patients with iKS, evaluating the differences in terms of epidemiological and clinical features, management and outcomes between organ transplant recipients (OTR) and patients immunosuppressed for other medical conditions. Materials and methods: This retrospective study included, out of 1389 KS patients, 143 patients suffering from iKS being followed in an Italian tertiary care centre from November 1995 to December 2016. Demographic data, clinical features, previous immunosuppressive therapies, management, and outcomes were recorded for each patient. Results: We detected iKS in 10.3% of the analysed KS population. The mean age was 71.9 years in non-OTR versus 51.4 years in OTR (P ¼ 0.04). Staging at diagnosis showed a more severe disease in non-OTR than in OTR, with stage IA observed in 33.3% of OTR versus 11.8% of non-OTR (P < 0.001) and stage IVB in 29.1% of non-OTR versus 12.1% of OTR (P ¼ 0.001). Corticosteroids represented the most frequent immunosuppressive drugs at diagnosis in both groups, in conjunction with cyclosporine A in OTR. Immunosuppressant reduction or withdrawal was carried out in 93.9% of OTR versus 63.6% of non-OTR (P < 0.001). Conclusions: As corticosteroids and cyclosporine A are the most common iKS-inducing drugs, their reduction or withdrawal, wherever possible, is needed. Differences in disease severity at presentation between OTR and non-OTR may interfere with the choice of management strategy and the consequent outcome.
Australasian Journal of Dermatology, May 13, 2023
Anais Brasileiros De Dermatologia, Sep 1, 2022
Giornale italiano di dermatologia e venereologia, Oct 1, 2020
Clinical and Experimental Dermatology, Feb 25, 2019
We read with great interest the recent article by Wang et al. 1 reporting on a psoriatic patient ... more We read with great interest the recent article by Wang et al. 1 reporting on a psoriatic patient co-affected by HIV-related Kaposi's sarcoma (KS), whose poorly controlled psoriasis was 2.
Neurological Sciences, 2021
Myasthenia gravis (MG) is an autoimmune neuromuscular disease whose treatment encompasses acetylc... more Myasthenia gravis (MG) is an autoimmune neuromuscular disease whose treatment encompasses acetylcholinesterase inhibitors, oral steroids, and other immunosuppressants. Kaposi’s sarcoma (KS) is a lymphangioproliferative disease associated with human herpesvirus 8 (HHV-8) infection and immunodeficiency or immunosuppression, mainly corticosteroids. We present two cases of MG patients treated with oral steroids who developed KS. Patient 1 was diagnosed with three oral KS lesions. Prednisone was discontinued with lesion regression and stabilization, while azathioprine and pyridostigmine prompted control of MG. Patient 2 developed KS lesions on the trunk and lower limbs while taking prednisone and azathioprine. Steroid tapering was started but new oral and lymph nodal lesions appeared. Paclitaxel therapy was introduced and the patient experienced pulmonary embolism and developed sensitive neuropathy. Complete remission of KS lesions was achieved and maintained with azathioprine and pyrido...
In the dermatological clinical practice it is quite frequent to biopsy a skin lesion for diagnost... more In the dermatological clinical practice it is quite frequent to biopsy a skin lesion for diagnostic, therapeutic or for both diagnostic and therapeutic purposes. Nevertheless, the accessibility of the organ "cutis" not always turns out to be advantageous unless a profitable cooperation and an acurate flow of information between the dematologist and the patologist is performed. In fact, the patological image is not always so specific, making the knowledge of the clinical picture necessary to reach a correct diagnosis. Type, site, distribution, evolution of the dermatosis are all important data easier to find in an institutional context, while in the routine out-patient practice this dermo-patological dialogue is much more difficult. The module herein presented gives, especially in this context, a valid co-operation means in accordance between the dermatologist and the patologist in order to improve the diagnostic accuracy in the ultimate interest of the patient
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Papers by Athanasia Tourlaki