Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus.
A patient is described who has a unique combination of symptoms that correspond with two sun-sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematosus (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among U.S. blacks, thus far, although African black cases are known. Her DNA repair levels are 20--30% of normal, within the range found for many XP cell cultures and consistent with her assignment to group C by other investigators. Unusual for group C cases, however, are the neurological disorders, some of which correspond to those found in the de Sanctis Cacchione form of XP, which is commonly assigned to group A. Whether the associated SLE is a consequence of some special aspect of this particular XP condition or whether it is fortuitous cannot be resolved at present.
D000293:Adolescent; D044383:Black People; D002280:Basal Cell Carcinoma / Q000150:complications; D002648:Child; D004260:DNA Repair; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007361:Intelligence Tests; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D008831:Microcephaly / Q000150:complications; D009422:Nervous System Diseases / Q000150:complications*; D009460:Neurologic Examination; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications*; D012878:Skin Neoplasms / Q000150:complications; D014786:Vision Disorders / Q000150:complications; D014983:Xeroderma Pigmentosum / Q000150:complications*