Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients

Abbassi, Meriame; Sayel, Hanane; Senhaji, Nadia; Trhanint, Said; Bay, Hanane Bay; Bouguenouch, Laila; Mernisi, Fatima Zahra

doi:10.1186/s43042-022-00368-9

Cited by 1 publication

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“…12 Reports show that the clinical presentation of early disease includes dry and scaly patch pigmentation of the skin, corneal opacities and skin ulcers. 13 14 Malignant manifestations of the disease in African population include squamous cell carcinoma involving the head, neck and upper trunk, [15][16][17][18] In Pemba, Zanzibar, some geographical areas have been found to have cases of XP. Anecdotal evidence indicates an increased incidence of XP in the study area for the past 15 years.…”

Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

Community perspectives on the magnitude of Xeroderma pigmentosum and care-seeking practices in Micheweni district, Pemba: a mixed-methods cross-sectional study

Matemba,

Shayo,

Masemo

et al. 2024

BMJ Open

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ObjectivesTo determine the community’s perception on the magnitude of Xeroderma pigmentosum (XP) disease and healthcare-seeking practices in Micheweni, Pemba in response to the public widespread information on the increased burden of the disease.DesignMixed-methods cross-sectional study.SettingMicheweni district, Pemba.Participants211 male and female adults in the household survey, three caretakers/parents of patients with XP in the case study, 20 key community leaders/influential people and health workers in in-depth interviews and 50 community members and other leaders in six focus groups.ResultsThis study has revealed that XP disease exists in few families of which some of them have more than one child affected. The record review showed that there were a total of 17 patients who were diagnosed with the disease for the past 3 years, however only 10 were alive during the time of the survey. Findings from the community members revealed that several patients were believed to have XP disease and perceived causes include inheritance, food types, beliefs and other sociocultural practices. Stigma and discrimination were reported by caretakers and religious leaders. However, some cases believed to be XP were identified as other skin conditions when clinical examination was performed by the team of our researchers. There is a great confusion about XP and other skin diseases.ConclusionThe study has shown that XP affects only few families, hence termed as concentrated rather than a generalised disease. Due to the rareness of the disease, majority of people in the district are unaware of the disease, hence confusing it with other skin conditions. There is a need for the government in collaboration with other stakeholders to provide educational programme to community members about the disease to address the misconception about the magnitude of the disease.

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