PASH syndrome identified
MedWire News: The combination of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) characterizes a novel autoinflammatory cutaneous syndrome, say researchers.
A similar hereditary autoinflammatory syndrome known was recently identified, which is characterized by the presence of pyoderma gangrenosum, a condition causing necrotizing ulcers, acne, and pyogenic or septic arthritis (PAPA).
Markus Braun-Falco (Ludwig-Maximilian-University, Munich, Germany) and colleagues describe two unrelated men, aged 34 and 44 years, with a presentation similar to that of PAPA syndrome.
The team explains that although both patients had pyoderma gangrenosum and acute or remittent acne conglobate, neither had ever had any episodes of pyogenic arthritis.
However, both had suppurative hidradenitis, a rare disorder where abscesses or cysts of varying size form in the sweat glands.
Neither had mutations in the coding regions of the proline-serine-threonine-phosphatase-interactive protein 1 gene (PSTPIP1), which are known to characterize PAPA syndrome, nor in other likely autoinflammatory disease candidate genes such as MEFV, NLRP3, and TNFRSF1A.
The authors note that interleukin (IL)-1β may be of pathogenic importance to this syndrome, as one patient was given the IL-1 receptor antagonist anakinra and had a good response. However, complete remission was not achieved.
The other patient was given systemic glucocorticosteroids and azathioprine, commonly used for inducing immunosuppression, which reduced inflammation and the size of the ulceration with some success over 1 year of treatment.
"The constellation of pyoderma gangrenosum, acne, and suppurative hidradenitis represents a new autoinflammatory disorder distinct from PAPA, for which we propose the acronym 'PASH'," write Braun-Falco et al in the Journal of the American Academy of Dermatology.
They suggest that PASH syndrome "may be linked to genes involved in the NALP3 inflammasome pathway regulating IL-1β-induced neutrophil-rich inflammation."
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By Helen Albert