Xeroderma pigmentosum: a Turkish case series.
BACKGROUND
Xeroderma pigmentosum (XP) is a rare, autosomal recessive genodermatosis in which affected individuals exhibit sun sensitivity, cutaneous pigment abnormalities, and a high incidence of skin cancers of sun-exposed skin.


METHODS
We studied the clinical features of 12 XP patients from Turkey, who were followed for 5 years.


RESULTS
Consanguinity was confirmed in 10 cases. The onset of hyperpigmented macules and photosensitivity was between the ages of 6 months and 5 years (average age, 25 months). The first appearance of cutaneous tumors was at 3-28 years of age (average age, 12 years). In nine of the 12 patients, cutaneous malignancies were confirmed histopathologically, and all nine were squamous cell carcinomas. One patient developed both squamous cell carcinoma and malignant melanoma.


CONCLUSIONS
This study presents the epidemiological and clinical features of Turkish XP patients. We believe this study will provide new data for further studies in the future.
Gül
Ulker
U
2nd Dermatology Clinic, Ankara Numune Education and Research Hospital, Ankara, Turkey.
Kiliç
Arzu
A
Gönül
Müzeyyen
M
Cakmak
Seray Külcü
SK
Soylu
Seçil
S
D000293:Adolescent; D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D008875:Middle Aged; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000150:complications / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D013471:Sunburn / Q000150:complications; D013472:Sunlight; D014421:Turkey / Q000453:epidemiology; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000473:pathology*