A patient is reported with Klinefelter's syndrome, systemic lupus erythematosus (SLE) and acquired cutaneous hepatic porphyria. Although patients with chromatin positive Klinefelter's syndrome may have elevated auto-antibodies, this patient had definite diagnostic criteria for SLE. Furthermore, evidence of disturbed porphyrin metabolism compatible with acquired cutaneous hepatic porphyria was found. It is speculated that the major disturbance in our patient's porphyrin biosynthesis may be distal to ^-ALA synthetase. Any association between the three diseases is conjectural: however, it is noteworthy that both SLE and porphyria are more common in the female and that our patient had two X chromosomes in addition to a Y chromosome in his karotype.
Saeed-uz-Zafar, M.; Gronewald, W. R.; and Bluhm, G. B.
"Co-Existent Klinefelter's Syndrome, Acquired Cutaneous Hepatic Porphyria and Systemic Lupus Erythematosus,"
Henry Ford Hospital Medical Journal
: Vol. 18
Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol18/iss4/2