We thank Hermasch et al. for their comments on our paper describing the novel NCSTN R583* mutation associated to familial acne inversa (FAI) in an Italian family, where the proband was also clinically diagnosed with Dowling-Degos disease (DDD). In our report, we raised the attention on this particular patient subset with comorbid FAI-DDD, emphasizing the connection between autoinflammatory-keratinization disorders and genetic reticulated pigmentary disorders. Based on our findings, we think that there ais enough evidence to claim that R583* NCSTN mutation is associated with DDD and FAI.

Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation - is there enough evidence?: reply from the authors

Tricarico, P M;Crovella, S;Boniotto, M
2021

Abstract

We thank Hermasch et al. for their comments on our paper describing the novel NCSTN R583* mutation associated to familial acne inversa (FAI) in an Italian family, where the proband was also clinically diagnosed with Dowling-Degos disease (DDD). In our report, we raised the attention on this particular patient subset with comorbid FAI-DDD, emphasizing the connection between autoinflammatory-keratinization disorders and genetic reticulated pigmentary disorders. Based on our findings, we think that there ais enough evidence to claim that R583* NCSTN mutation is associated with DDD and FAI.
7-set-2020
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https://onlinelibrary.wiley.com/doi/10.1111/bjd.19543
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Descrizione: This is the peer reviewed version of the following article: Garcovich et al. Br J Dermatol 2021; 184:375–376, which has been published in final form at https://doi.org/10.1111/bjd.19543. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11368/2972516
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