We previously highlighted the clinical and genetic characteristics of xeroderma pigmentosum (XP) in Nepal, dominated by a high frequency not related to consanguinity, the significant severity of the disease, the absence of neurological abnormalities and the homozygous specific XPC mutation c.1243 C > T, p.R415X in 15/17 cases, suggesting a founder effect.1 Severe XP (particularly XPC in Nepal) frequently manifests early in childhood by multiple freckle-like spots and pre-cancerous lesions, followed by skin and/or eye cancers 2 (Figure 1). No curative treatment is available. Only extreme photoprotection can prevent skin cancers. Close follow-up by a dermatologist every 3 to 6 months is recommended.2 Studies have shown that patients' understanding oftheir disease and adherence to skin and eye protection are crucial, and that poor compliance and lack of knowledge and awareness may dramatically reduce lifespan.3-5 To complete and extend previous results in Nepal, we conducted a prospective, non-interventional study in the department of Dermatology and Venereology, Maharajgunj Medical Campus Tribhuvan University, a tertiary referral centre of the country. A standardised questionnaire (Table 1) was offered to patients (and/or parents for minors) consulting between August 2022 and April 2023, including questions about their lifestyle, medical history, knowledge of the disease, awareness of sun risk, means of photoprotection and access to medical care and dermatological follow-up. All participating patients and/or families gave their informed consent. 1. About the family: a. Are there other people with Moon Child disease? b. If yes i. How many ii. Who is it about? 2. About your lifestyle: a. Do you go to school? b. Do you study? c. Do you work? If yes, is it an outside work? d. Approximately, how many hours per week do you spend outdoors during daytime? < 2H 2-6H 6-8H >8H 3. Personal history a. At what age did you learn that you had Moon Child Disease? b. For how long time have you been under dermatological care for this disease? c. How many times have you been seen in dermatology for this disease? d. Have you ever had surgery for a skin tumour? e. If you had multiple surgeries for skin tumours, can you give an approximate number? i. Between 2 and 5 ii. Between 6 and 10 iii. >10 f. Does your illness cause you problems with your eyes (red eyes, pain, vision…)? g. Are you taking vitamin D treatment (tablets or ampoules)? 4. The following part of the questionnaire is designed to assess what you know about your disease and the preventive measures to be taken a. What do you think, or have you been told, about the origin of this disease? Where does it come from? How did you get it? b. Do you know what causes the skin tumours to appear in this disease? c. Do you know the possible sources of ultraviolet radiation? (Multiple answers possible) i. Daylight, only when there is sunlight ii. Daylight, even when it is cloudy or raining iii. Daylight, only outside iv. Daylight also through windows v. Hallogen lamps d. Have you made a habit of protecting your body with covering clothes? If yes, what type of clothing do you use? i. Long trousers ii. Long-sleeved shirt iii. Gloves iv. Hat if no specific mask is available e. Do you wear effective sunglasses? i. Never ii. Occasionally when I go out on a sunny day iii. Systematically when I go out iv. Also indoors, sometimes, when I am exposed to light f. Do you have a sun protection mask for your face? No Yes, a cloth mask (or hood) Yes, a special mask with a window specifically made for this disease g. If you have a mask, do you wear it? i. Every time you go outside during daytime ii. Several times a week iii. Once a week iv. Less than once a week v. Never h. If you do not use a mask, can you specify why? i. I don't know that masks are recommended in children of the moon disease ii. I have not been able to get one iii. Because of the discomfort (heat, moisture etc.…) iv. Because of other people looking at me? v. Other reason (specify): i. When you go outside, do you apply sunscreens on skin areas which are not protected by a mask or clothing? i. Yes, every 4 h ii. Yes, every day: 1–2 times a day iii. Only occasionally iv. Never j. If you do not apply sunscreens (or insufficiently), could you please explain why? i. I don't need them because my skin is always protected by the mask and clothes ii. I don't know that I need to protect myself with sunscreens. iii. I have heard about sunscreens, but I don't understand the usefulness for me iv. I can't get sunscreens 1. Because I can't find them where I am living 2. Because it is too expensive v. I don't have time to apply creams vi. I don't like applying creams, it's uncomfortable k. When you are indoors but the daylight comes through windows, are you protected by special UV filters (Multiple answers possible) i. No ii. Yes, filters have been placed on the windows of the house iii. Yes, filters were placed on the windows of the school iv. Yes, filters were placed on the windows of our vehicle l. Are you aware that there is an association helping children of the moon in Kathmandu? If yes: i. Have you contacted them? ii. Did they help you? Thirty out of 80 patients seen at least once for XP were included, aged between 19 months and 58 years (median: 16.5 years). Half (n = 15) had a family history of XP, with an average of two affected children per family. The median age at diagnosis was 4 years. Median time from diagnosis to start of follow-up was 4 years. One-third (n = 10) were followed by a dermatologist at least twice a year; the others were only followed once a year (n = 11) or less (n = 9). Half of the patients had previous skin carcinomas removed, usually multiple (2 to >10). Only 2/30 took vitamin D supplements. Eight patients or parents (27%) were unaware of the genetic/hereditary nature of XP. Nearly all (29/30) knew sun exposure could be deleterious, but 9/30 did not know what ultraviolet (UV) rays were and 10/30 identified direct outside exposure on sunny days as the only risk factor. None had an easy-to-use UV radiation metre. Some 13/30 reported outdoor activities during more than 8 h a week. Worryingly, 8/27 patients of school age or older (30%) were not in education or employment. Six (20%) had a UV-resistant face mask, as recommended, but only two wore it every day while outside; the other four wore it rarely or never, being afraid of 'how others would look at them'. No patient support groups were available. Only six patients (20%) reported regularly applying sunscreen before sun exposure. The others said sunscreens were not available in their living environment. Almost half (14/30) never wore sunglasses and 7/30 wore them only on sunny days. Overall, these data illustrate insufficient knowledge of the disease and awareness of sun-risk, and a lack of effective photoprotection and regular medical care for XP patients in Nepal, despite a probable overestimation and selection bias resulting from better access of responders compared with non-responders to regular dermatological follow-up. Poverty and lack of health insurance, deschooling, social exclusion, psychological and geographical isolation, including remoteness of residence from care centres, are the main obstacles to optimal care, which has been considered to offer XP patients without neurological abnormalities (i.e., Nepalese XPC patients) a relatively normal lifespan.6 Improving information for patients, families, educators and caregivers, providing social support and financing regular visits to dermatologists seem essential to reducing the morbidity and mortality associated with XP in Nepal. Study conception and design: Marie Fournier, Vilok Mishra, Upama Paudel, Anne Grange, Sudip Parajuli, Florent Grange; data collection: Marie Fournier, Vilok Mishra, Upama Paudel, Sudip Parajuli; analysis and interpretation of results: Marie Fournier, Anne Grange, Florent Grange; draft manuscript preparation: Marie Fournier, Florent Grange, Anne Grange. All authors reviewed the results and approved the final version of the manuscript. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. All co-authors have seen and agree with the contents of the manuscript and there is no financial interest to report. The authors declare no conflict of interest. The parents/guardians of minor patients have given written informed consent for their child's participation in the study, as well as for the use of their child's deidentified, anonymized, aggregated data, and case details (including photographs) for publication. Adult patients have given written informed consent for participation in the study and the use of their deidentified, anonymized, aggregated data and their case details (including photographs) for publication. The protocol has been approved by the 'Institutional Review Committee' of the Institute of Medecine of the Tribhuvan University, Maharajgunj, Kathmandu, Nepal. Data available on request from the authors. The data that support the findings of this study are available from the corresponding author upon reasonable request.
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Fournier et al. (2024) studied this question.
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