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Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus
Author(s) -
Hananian J.,
Cleaver J. E.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00112.x
Subject(s) - xeroderma pigmentosum , dermatology , lupus erythematosus , medicine , dna repair , dna , immunology , genetics , biology , antibody
A patient is described who has a unique combination of symptoms that correspond with two sun‐sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematows (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.