 |
|
Xeroderma PigmentosumReport of Two Cases With Metabolic Studies
HUBERT V. MOSS, JR., MD
Arch Dermatol. 1965;92(6):638-642.
Abstract
Endocrine and metabolic features were studied in two patients with xeroderma pigmentosum. Consistent findings included a nonspecific aminoaciduria of the overflow type involving aspartic and glutamic acid, reduced creatinine clearance, low urinary steroid excretion with subnormal responses to adrenocorticotrophic hormone (ACTH), and metyrapone stimulation. Baseline plasma cortisol and the response to ACTH were normal. Erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity was slightly prolonged. No abnormalities were found in the serum  2-globulins, ceruloplasmin, serum copper, or transaminase (SGOT) levels. The presence of a generalized metabolic disorder involving the skin, kidney, and liver is considered.
Author Affiliations
RICHMOND, VA
From the Division of Dermatology, Department of Medicine, Medical College of Virginia.
Footnotes
Accepted for publication July 29, 1965.
Reprint requests to Division of Dermatology, Medical College of Virginia, Richmond, Va 23219.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Xeroderma Pigmentosum: Cutaneous, Ocular, and Neurologic Abnormalities in 830 Published Cases
Kraemer et al.
Arch Dermatol 1987;123:241-250.
ABSTRACT
Ocular Manifestations of Xeroderma Pigmentosum in a Black Family
Bellows et al.
Arch Ophthalmol 1974;92:113-117.
ABSTRACT
Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair
ROBBINS et al.
ANN INTERN MED 1974;80:221-248.
ABSTRACT
Xeroderma Pigmentosum: Clinical and Laboratory Investigation of Its Basic Defect
Reed et al.
JAMA 1969;207:2073-2079.
ABSTRACT
Xeroderma Pigmentosum, Malignant Melanoma, and Congenital Ichthyosis: A Family Study
Lynch et al.
Arch Dermatol 1967;96:625-635.
ABSTRACT
|
