On 2014 Dec 05, Dina Danso-Abeam commented:

The discussion part of this article mentions 3 proposed modes of inheritance for Olmsted syndrome (OS). However, via exome sequencing, it is now known that the X-linked inheritance form of the disease has MBTPS2 (Membrane-bound transcription factor protease, site 2) as the pathogenic gene. The autosomal dominant form of OS has TRPV3 (transient receptor potential cation channel, subfamily V, member 3) as the pathogenic gene Lin Z, 2012. Recent study from Wang et al, actually challenges the existence of the X-linked form to be a true OS instead of being a severe form of IFAP (Itchyosis follicularis, alopecia, and photophobia) syndrome Wang HJ, 2014.

References:

1. Lin, Z. et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. American journal of human genetics 90, 558-564 (2012).

2. Wang, H.J. et al. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. Clinical and experimental dermatology 39, 158-161 (2014).

On 2014 Dec 05, Dina Danso-Abeam commented:

The discussion part of this article mentions 3 proposed modes of inheritance for Olmsted syndrome (OS). However, via exome sequencing, it is now known that the X-linked inheritance form of the disease has MBTPS2 (Membrane-bound transcription factor protease, site 2) as the pathogenic gene. The autosomal dominant form of OS has TRPV3 (transient receptor potential cation channel, subfamily V, member 3) as the pathogenic gene Lin Z, 2012. Recent study from Wang et al, actually challenges the existence of the X-linked form to be a true OS instead of being a severe form of IFAP (Itchyosis follicularis, alopecia, and photophobia) syndrome Wang HJ, 2014.

References:

1. Lin, Z. et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. American journal of human genetics 90, 558-564 (2012).

2. Wang, H.J. et al. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. Clinical and experimental dermatology 39, 158-161 (2014).