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Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus

Abstract

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 US 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. 25 references, 2 figures.
Publication Date:
Jan 01, 1980
Product Type:
Journal Article
Reference Number:
EDB-85-049193
Resource Relation:
Journal Name: Clin. Genet.; (Denmark); Journal Volume: 17
Subject:
59 BASIC BIOLOGICAL SCIENCES; XERODERMA PIGMENTOSUM; PATHOGENESIS; DNA REPAIR; LUPUS; MINORITY GROUPS; NERVOUS SYSTEM DISEASES; PATIENTS; PHOTOCHEMICAL REACTIONS; PHOTOSENSITIVITY; XP CELLS; ANIMAL CELLS; BACTERIAL DISEASES; BIOLOGICAL RECOVERY; BIOLOGICAL REPAIR; CHEMICAL REACTIONS; DISEASES; HUMAN POPULATIONS; INFECTIOUS DISEASES; POPULATIONS; RECOVERY; REPAIR; SENSITIVITY; SKIN DISEASES; TUBERCULOSIS; 550900* - Pathology
OSTI ID:
6055266
Research Organizations:
Univ. of Miami, FL
Country of Origin:
Denmark
Language:
English
Other Identifying Numbers:
Journal ID: CODEN: CLGNA
Submitting Site:
HEDB
Size:
Pages: 39-45
Announcement Date:
Mar 01, 1985

Citation Formats

Hananian, J, and Cleaver, J E. Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Denmark: N. p., 1980. Web.
Hananian, J, & Cleaver, J E. Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Denmark.
Hananian, J, and Cleaver, J E. 1980. "Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus." Denmark.
@misc{etde_6055266,
title = {Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus}
author = {Hananian, J, and Cleaver, J E}
abstractNote = {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 US 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. 25 references, 2 figures.}
journal = []
volume = {17}
journal type = {AC}
place = {Denmark}
year = {1980}
month = {Jan}
}