The expanding spectrum of autoinflammatory syndromes related to hidradenitis suppurativa



Introduction: Hidradenitis Suppurativa (HS) is a chronic, recurrent, painful, autoinflammatory condition resulting in deep-seated nodules and abscesses. Mutations of the gamma secretase gene are thought to contribute to the disorder, which has significant physical and psychological morbidity. We present a 41-year-old male of an Ango-Caucasian descent with HS since adolescence, concomitant acne conglobate, hypertension, and mitral valve incompetence. He was an ex-smoker with a moderate alcohol intake. Clinical examination revealed widespread, recurrent, painful inflammatory nodules, abscesses, draining sinuses, and double-ended comedones to the axillae, groin, buttocks, back, chest, torso, scalp, and neck. He had significant, widespread scarring at sites of prior lesions. There was a clear family history of HS with the patients’ father, paternal grandfather, four cousins, four uncles and two aunts also being affected by the disease of varying severity.
Results: Initial genetic sequencing revealed he was a heterozygous carrier for the CCTG-microsatellite polymorphism of the PSTPIP1 gene; a widely accepted polymorphism associated with PASH (pyoderma gangrenosum, acne, and HS) syndrome. However, because of the absence of pyoderma gangrenosum (PG) at any time in the course of the patients’ disease, the genetic sequencing was repeated.
Discussion and Conclusion: The importance of this report lies in the disparity between the gene testing and the clinical findings. It is this discordance of the absence of PG in a patient with the accepted genotype of the PASH syndrome that makes this family unique. The report means that the clinical manifestations of the PASH syndrome are the result of heterogeneic factors.


Dr. Dunja Vekic

Ingham Institute for Applied Medical Research; Department of Dermatology Liverpool Hospital