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Primary TMAU is a rare metabolic disorder that results from the failure of hepatic FMO3 to oxidize TMA due to a mutation in the I FMO3 i gene. Trimethylaminuria (TMAU) is a rare metabolic disorder characterized by an unpleasant body odor resembling decaying fish.[1] Biochemically, all affected patients present with an increased amount of trimethylamine (TMA) due to a mutation in the I FMO3 i gene, leading to the inability to oxidize this amine to the non-odorous metabolite, trimethylamine N-oxide (TMAO).[2] Patients with TMAU may experience serious psychosocial phenomena that limit their quality of life and also several systemic diseases.[3] Many therapeutic regimens have been proposed, and TMAU symptoms can be temporarily alleviated with certain drugs. Our patient exhibited a substantial and sustained improvement after a deprivation diet, underlining the importance of avoiding food containing elevated amounts of TMA in patients with mutations affecting the I FMO3 i gene. [Extracted from the article]

Hailey-Hailey disease (HHD) is a rare genodermatosis caused by a mutation in the ATP2C1 gene, which codes for a calcium channel. Therefore, we suggest the combined use of apremilast with BoNT infiltrations as rescue treatment for lesions located in skin folds with excessive sweating activity. Here we present a case of refractory HHD who experienced an excellent response after treatment with apremilast and botulinum toxin-A (BoNT) infiltrations. [Extracted from the article]