Publications by authors named "Rocio C Bueno-Molina"
Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the MEFV gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49-year-old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.
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- Lipoid proteinosis (LP) is a rare genetic skin disorder caused by ECM1 gene mutations, leading to abnormal material accumulation in skin and organs.
- The case report focuses on a 48-year-old man with LP who improved significantly after treatment with oral acitretin, while a systematic review was conducted to gather and evaluate related studies on LP management.
- The review included 25 studies and analyzed data from 44 patients, suggesting that low-dose acitretin may be a promising treatment option with fewer side effects, but highlights the need for further research to develop better treatment guidelines.