Abstract
We present the case of an 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age, and taken as a whole the consensus was that this clinical picture was consistent with Xeroderma Pigmentosum (XP). We highlight the difficulties encountered due to the lack of diagnostic and treatment modalities for this child, and offer a brief review of XP, including emerging treatments that show potential.
Highlights
We present the case of an 8 year-old girl who presented to the out-patient department of a small hospital in Santiago Atitlàn, Guatemala, after maternal concern regarding progressive ocular lesions
Large hyperkeratotic lesions were present on the cheeks and nose with some induration suspicious of actinic keratosis and early squamous cell carcinoma
There were numerous hyper-pigmented lentigos and xerosis limited to sun-exposed sites
Summary
Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country. Address: 1Specialty Registrar in Dermatology, University Hospital of North Staffordshire, UK, 2Medical Student, Touro University College of Osteopathic Medicine, CA, USA and 3Supervising Physician, Hospitalito Atitlàn, Santiago Atitlàn, Guatemala. Published: 20 October 2008 Cases Journal 2008, 1:254 doi:10.1186/1757-1626-1-254
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