BMJ Open · 6 authors, 4 centres
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Xeroderma pigmentosum (XP) is a rare, concentrated disease affecting only a few families in Micheweni, Pemba, with only 10 living patients identified from 17 diagnosed cases over three years. Community awareness is low (48%), and most people confuse XP with other skin conditions, leading to stigma and reliance on traditional healers. The study highlights the need for health education and improved diagnostic capacity to address misconceptions and support affected families.
**Background:** Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by sun sensitivity, photophobia, early freckling, and neoplastic changes on sun-exposed skin. Prevalence varies globally (e.g., 1 in 20,000 in Japan, 1 in 250,000 in the USA, 2.3 per million live births in Western Europe). In Africa, data are scarce, but higher rates are reported in North Africa (e.g., 1 in 10,000 in Tunisia) due to consanguinity. In Pemba, Zanzibar, anecdotal evidence suggested an increased incidence of XP over the past 15 years, with widespread rumors and stigma. This study aimed to establish the magnitude, community understanding, attitudes, and practices regarding XP in Micheweni district.
**Methods:** A mixed-methods cross-sectional study was conducted in January 2020 in Micheweni district, Pemba. Five of eight shehias (wards) were purposively selected based on the presence of XP patients. For the quantitative component, 223 households were randomly selected (211 interviewed, 94.6% response rate). A structured questionnaire captured perceived prevalence, risk factors, and health-seeking behavior. Record reviews at the district hospital and one health center provided data on XP cases and deaths from 2017–2020. Qualitative data included 6 focus group discussions (FGDs) with community members and leaders, 20 in-depth interviews (IDIs) with healthcare providers, influential people, community health volunteers, elders, and traditional healers, and 3 case studies with caretakers of XP patients. Quantitative data were analyzed using STATA; qualitative data were transcribed and thematically coded.
**Key Results:** Record reviews identified 17 XP cases diagnosed over 3 years (10 males, 7 females); only 10 patients (aged 1–12 years) were alive at the time of the survey. Six children died before age 10. Four living children had advanced disease with carcinomatous changes (melanoma and squamous cell carcinoma). In the household survey, only 17 (6.14%) of respondents listed XP among the top 10 diseases in their community. Awareness of XP was reported by 101 (47.9%) of 211 respondents, with significantly higher awareness in Chamboni (77.8%) compared to other wards (p=0.002). Among those aware, 38.6% considered XP a problem, 70% knew at least one affected person, and 18.8% reported a family member affected. The most commonly recognized symptom was dry skin with pigmentation (78.2%). Only 5.9% identified XP as hereditary; over half did not know the cause, while others cited environmental pollution, infections, and witchcraft. Qualitative findings revealed that community members often confused XP with other skin conditions (e.g., fungal infections, leprosy). The research team clinically examined suspected cases and found that 8 of 12 reported households actually had other skin diseases. Stigma and discrimination were reported by caretakers and religious leaders, including exclusion from community activities and marriage prospects. Healthcare-seeking behavior: 47.5% believed XP could be treated by hospital medication, but 81.2% said the first action for a suspected case would be a drug store consultation, and 17.8% mentioned traditional healers. Qualitative data indicated traditional treatment was common first-line. Only 28.7% believed XP could be prevented.
**Clinical Implications:** This study demonstrates that XP in Micheweni is a concentrated disease affecting few families, not a generalized epidemic. The high mortality (6 of 17 died before age 10) underscores the need for early diagnosis and supportive care. The confusion between XP and other skin conditions (e.g., fungal infections, leprosy) highlights the need for training healthcare providers in dermatological diagnosis and management. The low awareness (48%) and reliance on traditional healers indicate that health education campaigns are essential to correct misconceptions, reduce stigma, and promote appropriate care-seeking. The association of XP with consanguinity (common in Pemba) suggests genetic counseling may be beneficial. The study also calls for specialized dermatology services and molecular characterization to differentiate XP from other conditions. Policy implications include developing guidelines for rare diseases and strengthening health systems to accommodate emerging diseases.