‘Hidradenitis suppurativa and amyloidosis: a possible association with the pyrin inflammasome’: reply from authors

Abstract

review. We found 146 reported cases of NSML (Table S1). All had systemic symptoms and 143 patients (98%) had the typical cutaneous features, of whom only 8 patients (6%) displayed cutaneous features at disease presentation. We went through the medical history of these eight patients and found that two also carried the Thr468Met missense mutation; both had multiple lentigines at birth and developed systemic symptoms at the ages of 2 and 49 years, respectively. Taking this result, together with the fact that the 40 cases carrying this mutation in PTPN11 all had systemic symptoms, we speculate that our patient may develop other systemic symptoms later, and therefore long-term follow-up should be performed. It seems most likely that the suggestion of Seuanez et al. is correct and that EL may be an early stage of NSML. More studies are needed to confirm this. In conclusion, we performed a sequencing analysis, which identified a mutation in the PTPN11 gene in a Han Chinese patient with EL. Further follow-up is needed to investigate whether this patient develops any other systemic symptoms.