Xeroderma Pigmentosum: A Retrospective Case Series in Zimbabwe

Chidzonga, Midion Mapfumo; Mahomva, Leonard; Makunike-Mutasa, Rudo; Masanganise, Rangarirai

doi:10.1016/j.joms.2007.09.026

« Previous Next »Journal of Oral and Maxillofacial Surgery
Volume 67, Issue 1 , Pages 22-31, January 2009

Xeroderma Pigmentosum: A Retrospective Case Series in Zimbabwe

Midion Mapfumo Chidzonga, BDS, FFDRCSI, MMedSc
- Consultant Oral and Maxillofacial Surgeon, Department of Dentistry, College of Health Sciences, University of Zimbabwe, Harare, Zimbabwe
- Address correspondence and reprint requests to Professor Chidzonga: College of Health Sciences, University of Zimbabwe, Department of Dentistry, PO Box A178 Avondale, Mazowe Street, Harare, Zimbabwe
Leonard Mahomva, DDS
- Consultant Oral and Maxillofacial Surgeon, Department of Dentistry, College of Health Sciences, University of Zimbabwe, Harare, Zimbabwe
Rudo Makunike-Mutasa, MBChB, FRCPath
- Consultant Histopathologist, Department of Histopathology, College of Health Sciences, University of Zimbabwe, Harare, Zimbabwe
Rangarirai Masanganise, MBChB, FRCOphthalmol
- Consultant Ophthalmologist, Department of Surgery, College of Health Sciences, University of Zimbabwe, Harare, Zimbabwe

Purpose

To present our experience with the clinical features and management of black African patients with xeroderma pigmentosum (XP).

Patients and Methods

Twelve patients with XP were seen over a 25-year period, and were retrospectively reviewed for age, gender, clinical features, treatment, and follow-up.

Results

There were 8 females and 4 males with an age range of 3 to 18 years. One patient, the longest survivor, was followed until death at 18 years. Nine patients had the severe form of XP and 3 had the mild form. All patients had early ocular involvement with photophobia and early blindness. Squamous cell carcinoma (SCC) was present on the skin, lip, and tongue in most patients. One patient had ocular surface SCC. There was marked skin photosensitivity. No history of consanguinity was noted in the parents of the patients. Surgery was the treatment modality of choice. Follow-up was poor.

Conclusion

XP is uncommon in our black population, and presents in the severe form with SCC as the malignant skin, lip, and tongue lesion. It is common in early childhood with severe photosensitivity, photophobia, and eventual blindness. Follow-up is difficult in our environment.