The reactivation or reexpression of telomerase (TERT) is a widespread feature of neoplasms. TERT promoter mutations were recently reported that were hypothesized to result from UV radiation. In this retrospective study, we assessed TERT promoter mutations in 196 cutaneous basal cell carcinomas (BCCs), including 102 tumors from X-irradiated patients, 94 tumors from patients never exposed to ionizing radiation treatment, and 116 melanomas. We sought to evaluate the effects of UV and X-ray irradiation on TERT mutation frequency. TERT mutations were detected in 27% of BCCs from X-irradiated patients, 51% of BCCs from nonirradiated patients, and 22% of melanoma patients. TERT mutations were significantly increased in non-X-irradiated BCC patients compared with X-irradiated BCC patients; the mutations also presented a different mutation signature. In nonirradiated patients, TERT mutations were more frequent in BCCs of sun-exposed skin, supporting a possible causative role of UV radiation. In melanoma, TERT promoter mutations were generally restricted to intermittent sun-exposed areas and were associated with nodular and superficial spreading subtypes, increased thickness, ulceration, increased mitotic rate, and BRAFV600E mutations. Our results suggest that various carcinogenic factors may cause distinct TERT promoter mutations in BCC and that TERT promoter mutations might be associated with a poorer prognosis in melanoma.
Our results suggest that PDK expression may play a role in melanoma development and that DCA can be useful for CM therapy, alone or in combination with mTOR inhibitors.
Purpose – The purpose of this study is to examine how international workers engage into and make sense of expatriation and how sense-making enacts further action. Design/methodology/approach – Given the corporate influence over expatriation, empirical data were collected from a single case study organization, a well-established Portuguese retail company. The primary data sources were the in-depth interviews with 13 international workers, while other secondary data sources included company documents that provided the background information required to understand the interviewees and describe the organization. The experiences of expatriation through the accounts and stories of these workers were subject to thematic content analysis. Findings – The findings demonstrate that international workers act as sense-makers and sense-givers vehicles about expatriation. By doing so, they enact a plausible and dominant story that ultimately bounds the perception of divergent cues and limit their own action. While this ongoing dialogue between expatriation meaning and action can raise organizational actors’ capacities to negotiate and influence further meaning and action, it also validates existing practices and generates further compliance. Originality/value – Despite being limited to a single organizational context, this study offers a contextualized approach to the study of expatriation that complements earlier research and highlights sense-making dynamics and related outcomes, further extending the applications of the sense-making perspective. This study suggests new research avenues exploring the politics and negotiation bonds from which expatriation sense-making can emerge as well as the opportunities for disruptive sense-making.
Elastolytic giant cell granuloma (EGCG), also known as actinic granuloma, is an uncommon granulomatous dermatosis usually characterised by asymptomatic annular plaques on sun-exposed skin. Its aetiology is not fully elucidated, but actinic damage has been considered the main causal factor. Atypical variants with lesions in a non-photodistributed pattern are rare and often related to a systemic disorder, suggesting a more complex pathogenesis and demanding for a screening work-up. Herein, we report a case of an adult obese, diabetic woman presenting with a generalised pruritic papular eruption, histologically revealing an elastolytic giant cell granuloma, with a good response to treatment. In this case, the dermatosis was probably associated with her metabolic comorbidities.
A man in his 60s presented with a 2-month history of an asymptomatic peristomal rash. A colostomy had been performed 1 year previously on the left side of the abdomen in the setting of adenocarcinoma of the colon. He had a known history of mild plaque psoriasis for several years, controlled with topical corticosteroids. A skin examination revealed sharply demarcated erythematous plaques of different sizes, with silvery scale, distributed concentrically around the stoma (Figure ), beneath and beyond the adhesive tape used to affix the colostomy bag. Psoriatic lesions were present on his elbows and legs. The patient had previously been treated with moisturizers and topical antifungal creams by his enterostomal nurse without any improvement. A clinical diagnosis of peristomal koebnerization of psoriasis was made. The patient was treated with 0.005% calcipotriol/0.05% betamethasone dipropionate gel, with complete healing of all lesions.Koebner phenomenon, also known as isomorphic response, is characterized by the appearance of lesions on healthy skin as a consequence of cutaneous trauma. 1 Patients with a cutaneous disease who are stressed by different types of stimuli may develop lesions of the same kind as their preexisting skin disorder (isomorphic). The interval between injury and the development of lesions can be days to months in duration. 1 The pathogenesis of this phenomenon is not well understood. The release of inflammatory mediators following epidermal and dermal injury, in combination with a genetic predisposition, may trigger this reaction. 2 True koebnerization is mainly seen in patients with psoriasis, lichen planus, and vitiligo. Almost 25% of patients with psoriasis experience Koebner phenomenon. 1 In the present case, repeated trauma related to the colostomy bag likely elicited this response.Koebner phenomenon should be distinguished from other cutaneous phenomena. It is different from pathergy, which describes a disproportionate cutaneous injury at a site of minimal trauma, as can be seen in pyoderma gangrenosum or Behçet disease. 1 The phenomenon of a new, unrelated dermatosis appearing in the same location as a previously healed cutaneous disorder, usually herpes zoster, is referred to as the Wolf isotopic response. 3 Peristomal skin complications are common and include a wide variety of etiologic factors such as infectious and inflammatory dis-orders and even malignant tumors. 4 An important differential diagnosis for peristomal complications induced by trauma is pyoderma gangrenosum, particularly in the setting of painful papules progressing rapidly toward ulceration. However, the most frequent origin of peristomal rash is irritant contact dermatitis. If persistent, patch tests should be performed to rule out allergic contact dermatitis, which accounts for a smaller percentage of cases. 4 Koebner phenomenon is a rather frequent cutaneous complication. To avoid a delayed diagnosis, one must consider the possibility of koebnerization in patients with a preexisting skin condition.
A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1 associated CM-AVM syndrome, with the intracranial vascular malformation diagnosis preceding the identification of the skin lesions. Arterial aneurysms have been associated with CM-AVM syndrome in rare instances but to our knowledge this is the first reported case of an aneurysm of the basilar artery.
K E Y W O R D S : case report, cutaneous adverse drug reaction, generalized bullous fixed drug eruption, ibuprofen, patch tests Ibuprofen can commonly cause a wide variety of cutaneous reactions, but establishing the causal relationship is usually difficult. 1 We report a case of a skin drug reaction caused by ibuprofen, confirmed by positive patch test results. CASE REPORTA 47-year-old woman presented with annular erythematous plaques with vesicles and pustules, some grouped at the periphery of the lesions, with a herpetiform configuration, dispersed over the trunk and thighs (Figure 1); these had developed during the preceding 2 weeks. The patient reported sporadic self-medication with several non-steroidal anti-inflammatory drugs, including ibuprofen. Besides this, the patient's medical history was unremarkable. The findings of relevant laboratory investigations were unremarkable. Histological assessment of a skin biopsy was compatible with a bullous skin drug reaction (Figure S1); no IgA deposits were found. Three months later, patch tests with the Portuguese Contact Dermatitis Research Group (GPEDC) baseline series (Chemotechnique Diagnostics, Vellinge, Sweden) and different non-steroidal antiinflammatory drugs, including ibuprofen (5% and 10% pet.), were performed. For patch testing, Finn Chambers on Scanpor tape by SmartPratice were used (Phoenix, Arizona). Results were recorded on day (D) 2 and D3. Ibuprofen was also applied on a post-inflammatory hyperpigmentation patch on the abdomen. On D3, a strong reaction (++) with pustules at the periphery of the patch test site developed on (A) (B) FIGURE 1 Annular erythematous plaques with vesicles and pustules, some grouped at the periphery of the lesions, with a herpetiform configuration, localized on the upper trunk (A) and left thigh (B)
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