[A variant of xeroderma pigmentosum: two cases of pigmented xerodermoid].
Two patients (sister and brother) of pigmented xerodermoid are presented: the character of clinical signs (phothosensitivity, poikilodermia, keratoses and keratomas, furthermore in the brother the squamous cell epithelioma of left thigh), according to them the case history (appearance of precancerous conditions and carcinoma in early adult life) made the disease suspicious to a variant of xeroderma pigmentosum. A DNA reparation test was also carried out, which confirmed the above clinical diagnosis in both patients.
Somos
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Pécsi Orvostudományi Egyetem Bórgyógyászati Klinika.
Schneider
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Raskó
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D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000209:etiology*; D004260:DNA Repair; D005260:Female; D006801:Humans; D007642:Keratosis / Q000150:complications; D008297:Male; D010787:Photosensitivity Disorders / Q000150:complications*; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000235:genetics; D012878:Skin Neoplasms / Q000150:complications / Q000209:etiology*; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000145:classification / Q000150:complications / Q000235:genetics*
Xeroderma pigmentosum variáns: pigmentált xerodermoid két kóresete.