Xeroderma pigmentosum in four siblings with three different types of malignancies simultaneously in one.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by marked sensitivity to ultraviolet radiation that leads to the development of multiple skin malignancies. The authors describe four XP siblings in a consanguineous Pakistani family. The first patient was a boy who died at age 2 years. The second and third siblings were girls who died at age 2 and 7 years, respectively. The fourth sibling, the propositus, was a boy diagnosed with XP at age 7 years. He developed three different types of malignancies simultaneously and died at age 13. The authors conclude that it is important to be aware of multiple malignancies of different types in the same patient with XP.
El-Hayek
Mohammed
M
Department of Pediatric Hematology/Oncology, Tawam University Hospital and Faculty of Medicine and Health Sciences, Al Ain, United Arab Emirates. mohhayek@emirates.net.ae
Lestringant
Giles G
GG
Frossard
Philippe M
PM
D000293:Adolescent; D002280:Basal Cell Carcinoma / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004428:Ear Neoplasms / Q000473:pathology; D005142:Eyelid Neoplasms / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D010375:Pedigree; D035781:Siblings; D012878:Skin Neoplasms / Q000473:pathology*; D014983:Xeroderma Pigmentosum / Q000473:pathology*