What is the pathophysiology of acne conglobata (AC)?

Updated: Apr 06, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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The primary causes of acne conglobata remain unknown. Chromosomal defects in the XYY karyotype may be responsible for severe forms of acne conglobata. In contrast, the XXY karyotype of Klinefelter syndrome is believed to exclude severe acne; however, 1 patient with the unusual combination of Klinefelter syndrome and acne conglobata has been reported. [6]

The association of this disease with specific human leukocyte antigen (HLA) phenotypes has not been proven. The HLA-A and HLA-B phenotypes were evaluated in 65 patients with acne conglobata, in whom antigen frequencies were found to be normal. Other patients with acne conglobata and hidradenitis suppurativa were studied; 4 of 6 patients had HLA-B7 cross-reacting antigens (ie, HLA-B7, HLA-Bw22, HLA-B27, HLA-Bw40, HLA-Bw42), and all had HLA-DRw4. [7]

PAPA syndrome has been mapped to a locus on the long arm of chromosome 15 (maximum 2-point logarithm of odds score 5.83; recombination fraction [straight theta] 0 at locus D15S206). [8] Assuming complete penetrance, haplotype analysis of recombination events defined an interval of 10 centimorgans between loci D15S1023 and D15S979. This finding suggests that these clinically distinct disorders may share a genetic etiology.

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