A 10-year-old female presented to our global health outreach clinic in Uganda in May 2018 for evaluation of progressive pigmentary changes on the face and severe visual impairment. Cutaneous examination revealed a large area of mottled hypopigmentation involving the central nose and upper cutaneous lip (Figure 1). Ocular examination revealed corneal opacities involving the bilateral eyes (Figure 1). The dyspigmentation began during infancy and her vision progressively worsened since age 6. Her 3-year-old brother accompanied her and was noted to have similar dyspigmentation involving the face that had been present since 1 year of age (Figure 2). The family stated that both parents had direct relatives with similar cutaneous findings. Based on the clinical findings and family history, both patients were diagnosed with xeroderma pigmentosum (XP).

A 10-year-old female with mottled hypopigmentation involving the central nose and corneal opacities of the bilateral eyes.

A 3-year-old male with mottled hypopigmentation involving the central forehead, nose, and malar cheeks.
Xeroderma pigmentosum is an autosomal recessive disorder of DNA repair that is characterized by increased photosensitivity, early pigmentary changes, and UV-induced cutaneous malignancies [1]. Cutaneous manifestations typically present after 6 months of age as persistent erythema, scaling, and ephelides on sun-exposed skin followed by poikiloderma and numerous cutaneous malignancies [1]. There is a 2,000-fold increased risk of melanoma and 10,000-fold increased risk of basal cell carcinoma and squamous cell carcinoma, with a mean onset of malignancy by age 8 [1]. Extracutaneous manifestations may include ocular and neurodevelopmental complications. Common ophthalmologic complications include photophobia, conjunctivitis, ectropion, and symblepharon. Neurological deficits may occur including developmental delay, sensorineural hearing loss, hyporeflexia, and ataxia. In severe cases individuals usually die from complications related to metastatic melanoma or invasive squamous cell carcinoma by the age of 20. Diagnosis of XP should be established based upon the clinical findings, family history, and/or confirmatory genetic testing. Sun protection and avoidance with regular cutaneous examinations are essential in the long-term management of XP. Additional chemopreventive measures may be considered including systemic retinoids, topical fluorouracil, and oral nicotinamide [2, 3].
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Research funding: None reported.
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Author contributions: Both authors provided substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; both authors drafted the article or revised it critically for important intellectual content; both authors gave final approval of the version of the article to be published; and both authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
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Competing interests: None reported.
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Informed consent: A parent of the patients described in this report provided written informed consent.
References
1. Kraemer, KH, DiGiovanna, JJ. Forty years of research on xeroderma pigmentosum at the US National Institutes of Health. Photochem Photobiol 2015;91:452–9. https://doi.org/10.1111/php.12345.Search in Google Scholar PubMed PubMed Central
2. Campbell, RM, DiGiovanna, JJ. Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients. Dermatol Ther 2006;19:306–14. https://doi.org/10.1111/j.1529-8019.2006.00088.x.Search in Google Scholar PubMed
3. Lambert, WC, Lambert, MW. Development of effective skin cancer treatment and prevention in xeroderma pigmentosum. Photochem Photobiol 2015;91:475–83. https://doi.org/10.1111/php.12385.Search in Google Scholar PubMed
© 2022 Austin B. Ambur and Timothy A. Nyckowski, published by De Gruyter, Berlin/Boston
This work is licensed under the Creative Commons Attribution 4.0 International License.
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Articles in the same Issue
- Frontmatter
- Cardiopulmonary Medicine
- Original Article
- Financial conflicts of interest during meetings of the cardiovascular and renal drugs advisory committee
- General
- Original Article
- Osteoporosis knowledge and health beliefs among middle-aged men and women in the Southern United States
- Medical Education
- Commentary
- UGRC 2021 recommendations on GME transition: pros and cons, opportunities and limitations
- Pediatrics
- Case Report
- Spontaneous neonatal subcutaneous emphysema: analysis of neonatal management
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- The effect of long-term opioid use on back-specific disability and health-related quality of life in patients with chronic low back pain
- Case Report
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- Xeroderma pigmentosum presenting in two siblings from Uganda
- Letters to the Editor
- Further insight on AOA ophthalmology residency program closure data
- Response to “Further insight on AOA ophthalmology residency program closure data”