Xeroderma pigmentosum Variant Associated with Multiple Skin Cancers and a Lung Cancer

Dermatology ◽  
1992 ◽  
Vol 184 (3) ◽  
pp. 177-181 ◽  
Author(s):  
A. Mamada ◽  
K. Miura ◽  
K. Tsunoda ◽  
I. Hirose ◽  
M. Furuya ◽  
...  
2019 ◽  
Vol 30 (8) ◽  
pp. 1275-1286 ◽  
Author(s):  
Rebecca Anderson ◽  
Jessica Walburn ◽  
Myfanwy Morgan

In this study, we examine photoprotection for children with Xeroderma pigmentosum (XP), a rare genetic skin disease requiring rigorous photoprotection, to reduce risks of severe burning and skin cancers from exposure to ultraviolet radiation (UVR). We elicit the views and experiences of both children and their parents to inform the care and support provided. Qualitative semistructured interviews were undertaken with 12 child–parent dyads recruited from the National XP Specialist service in London. We employed a framework approach to analysis. This identified a high level of photoprotection based either on “protection” to facilitate normal activities or “avoidance” of outdoor activity with priority given to normality in the future. These approaches were shaped by perceptions of clinical risk, the emphasis given to a normal family life and families’ circumstances and resources. The findings contribute to notions of normalization and coping with demanding care regimens and inform approaches to working with families.


2016 ◽  
Vol 8 (3) ◽  
pp. 311-318 ◽  
Author(s):  
Mamadou Kaloga ◽  
Pauline Dioussé ◽  
Boubacar Ahy Diatta ◽  
Mariama Bammo ◽  
Sarah Kourouma ◽  
...  

Introduction: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. Observation: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months. In all 3 cases, the diagnosis of xeroderma pigmentosum was made before the poikilodermal appearance of sun-exposed areas and photophobia. Neurological-type mental retardation was noted in 1 case. Histology confirmed squamous cell carcinoma in all 3 cases. The evolutions were marked by the death of 2 children (cases 1 and 3). In one case, the outcome was favorable following cancer excision and subsequent chemotherapy with adjuvant radiotherapy. Conclusion: Squamous cell carcinoma is a serious complication related to xeroderma pigmentosum in Sub-Saharan Africa. Prevention is based on the early diagnosis of xeroderma pigmentosum, black skin photoprotection, screening and early treatment of lesions, and genetic counseling.


2020 ◽  
Author(s):  
Yumeng Niu ◽  
Hailong Deng ◽  
Lipeng Li ◽  
Weikang Chen ◽  
Yuxuan Wang ◽  
...  

Abstract Background According to the latest data released in 2018, it is estimated that there will be 18.1 million new cancer cases worldwide (excluding 1.7 million non-melanoma skin cancers) and 9.6 million cancer deaths (excluding 950 non-melanoma skin cancers) Million cases). Among them, the incidence of lung cancer (11.6% of the total number of cases) and mortality (18.4% of the total number of cancer deaths, which are expected to cause 1.8 million deaths) are the first. In recent years, studies have found TM4SF1 play an important role in the development process of many tumors.Methods Sixty-one patients with NSCLC who underwent surgical resection of cancer tissues, para-carcinoma tissues, and 10 normal lung tissues removed from benign lung disease (Jun/2018-Dec/2018) were collected. Real-time immunofluorescence quantitative PCR (qRT-PCR) and Western blot were used to detect the expression of TM4SF1 in NSCLC tissues (CT), para-carcinoma tissue (PCT), and normal lung tissues(NLT). TM4SF1 gene was overexpressed in lung cancer A549 cells using lentiviral transfection technology, qRT-PCR and Western blot were used to detect whether TM4SF1 gene was successfully expressed in lung cancer A549 cells, and Transwell was used to detect the effect of TM4SF1 overexpression on A549 migration. JAK2-STAT3 signal pathway interference reagent AG490 was used to analyze the expression levels of Stat3 and downstream Sox2 genes in the overexpression group, blank group, negative control group and their corresponding treatment groups TM4SF1, JAK2-STAT3 signal pathway using real-time qRT-PCR. Analyze the relevance of these three indicators at the same time.Results The expression levels of TM4SF1 mRNA and protein in cancer tissues were significantly higher than those in adjacent cancer tissues (P<0.05) and normal lung tissue specimens (P <0.05). The expression of TM4SF1 was not significantly associated with the age and sex of patients, but was associated with tumor size, degree of differentiation, lymph node metastasis, and clinical stage were related (P<0.05). TM4SF1 was successfully overexpressed in A549 cells. After overexpressing TM4SF1, the ability to migrate of A549 cells was significantly enhanced, and the expression levels of Stat3 and downstream Sox2 in the JAK2-STAT3 signaling pathway were up-regulated. The expression of TM4SF1, Stat3 and Sox2 at the mRNA level showed a positive correlation trend (P<0.01).Conclusion TM4SF1 is highly expressed in NSCLC, and its expression level is closely related to many clinical staging indicators. Overexpression of this gene can promote the migration of A549 cells and up-regulate the expression levels of Stat3 and downstream Sox2 in the JAK2-STAT3 signaling pathway. The expressions of TM4SF1, Stat3 and Sox2 were positively correlated in A549 cells. TM4SF1 may promote the occurrence, development and distant metastasis of NSCLC through this pathway. TM4SF1 may become a potential therapeutic target for NSCLC.


2017 ◽  
Vol 77 ◽  
pp. 84-87 ◽  
Author(s):  
Axel Hauschild ◽  
Julia Eichstaedt ◽  
Lena Möbus ◽  
Katharina Kähler ◽  
Michael Weichenthal ◽  
...  

2005 ◽  
Vol 118 (3) ◽  
pp. 714-720 ◽  
Author(s):  
Yan Cui ◽  
Hal Morgenstern ◽  
Sander Greenland ◽  
Donald P. Tashkin ◽  
Jenny Mao ◽  
...  

2021 ◽  
Vol 11 (11) ◽  
pp. 1146
Author(s):  
Monica Piccione ◽  
Anna Belloni Fortina ◽  
Giulia Ferri ◽  
Gloria Andolina ◽  
Lorenzo Beretta ◽  
...  

Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the most severe form. To date, the management of XP patients consists of (i) early diagnosis; (ii) a long-life protection from ultraviolet radiation, including avoidance of unnecessary UV exposure, wearing UV blocking clothing, and use of topical sunscreens; and (iii) surgical resections of skin cancers. No curative treatment is available at present. Thus, in the last decade, in order to prevent or delay the progression of the clinical signs of XP, numerous strategies have been proposed and tested, in some cases, with adverse effects. The present review provides an overview of the molecular mechanisms featuring the development of XP and highlights both advantages and disadvantages of the clinical approaches developed throughout the years. The intention of the authors is to sensitize scientists to the crucial aspects of the pathology that could be differently targeted. In this context, the exploration of the process underlining the conception of liposomal nanocarriers is reported to focus the attention on the potentialities of liposomal technology to optimize the administration of chemoprotective agents in XP patients.


2015 ◽  
Vol 8 (4) ◽  
pp. 141
Author(s):  
SunilY Swami ◽  
Sumeet Shrivastav ◽  
Rajnikant Musande ◽  
Grace D′Costa

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